CASE REPORT

Anemia Diamond Blackfan

Presentator:

Cheong Kai Liang (070100233)

Baran Palanimuthu (070100287)

Supervisor :

Prof. Dr. Hj. Bidasari Lubis,SpA(K)

Departement of Pediatrics

Haji Adam Malik General Hospital

Medical Faculty

University of North Sumatera

2011

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Case report

Anemia Diamond Blackfan

Presentator : Cheong Kai Liang ( 070100233 ): Baran Palanimuthu ( 070100287 )

Date : 28th June 2011Supervisor : Prof. Dr. Hj. Bidasari Lubis,SpA(K)

1.1 Definition

Diamond Blackfan Anemia (DBA) also known as congenital pure red cell aplasia describes a condition in which Red Blood Cell (RBC) precursors in bone marrow are nearly absent, while megakaryocytes and White Blood Cell (WBC) precursors are usually present at normal levels. This rare condition usually becomes symptomatic in early infancy, often with pallor in the neonatal period, but occasionally may first be noted later in childhood. Over 90% of cases are recognized in the 1st year of life, and the average age of diagnosis is 3 months old. The most characteristic hematologic features are macrocytic anemia, reticulocytopenia, and a deficiency or absence of red blood cell (RBC) precursors in an otherwise normally cellular bone marrow

1.2 Epidemiology

1.2.1 Frequency

Since 1936, when this disorder was originally reported, hundreds of cases of Diamond Blackfan Anemia (Congenital Pure Red Cell Aplasia) have been reported in the United States. At the moment it is still not known how’s the prevalence in Indonesia.

1.2.2 Mortality/Morbidity

The mortality rate for congenital pure red cell aplasia is expected to be slightly greater than that for the acute form of pure red cell aplasia. Most individuals with congenital pure red cell aplasia survive to early adulthood. Patients with the congenital form of pure red cell aplasia can also have physical abnormalities. Profound transfusion-dependent anemia is the most common morbidity. However, the treatment of anemia in persons with pure red cell aplasia can contribute to significant morbidity, as follows:

i) Transfusion therapy can lead to hemosiderosis, and the consequences of iron overload are growth retardation, delay in sexual maturity, cardiac arrhythmias, and cardiac failure. Transfusions can also transmit infections.

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ii) Corticosteroid therapy can lead to growth retardation, osteopenia, diabetes, and other complications.

1.2.3 Race and Sex

No racial and sex predilection is observed.

1.3 Etiology

The majority of cases are sporadic, although dominant or recessive patterns of inheritance are indicated by familial occurrence in about 15% of patients. The primary defects are in the erythroid progenitor cells, where there is an intrinsic defect that results in increased apoptosis (programmed cell death). High levels of erythropoietin (EPO) are present in serum and urine, although a search for mutations in the EPO receptor gene has been negative. In about 25% of sporadic and inherited cases there are mutations in a gene (DBA1) for a ribosomal protein S19, mapped to chromosome 19q13. A second gene for Diamond-Blackfan anemia has been linked to chromosome 8p, and most likely other genetic abnormalities will be identified. A unifying etiology for this disorder and the significance of these genetic alterations is being defined

1.4 Clinical Manifestations

Anemia is the primary problem. The degree of anemia can range from subclinical to severe. Patients with severe anemias have symptoms and signs of uncompensated anemia and present with weakness, tachycardia, and dyspnea.

Some, but not all, cases of anemia diamond blackfan are associated with severe anemia. In addition to anemia, approximately one third of patients develop physical abnormalities, most often involving the head, upper limbs, thumbs, urogenital system, or cardiovascular system. Growth retardation and unusual thumb formation can occur. However, these physical deformities are less severe than in Fanconi syndrome. Anemia is not often observed during the early neonatal period, but pallor, weakness, and dyspnea attributable to the anemia develop during the first year of life.

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1.5 Pathophysiology

1.5.1 The normal development and physiology of erythropoiesis process in children

Developmental hematopoiesis occurs in three anatomic stages: mesoblastic, hepatic, and myeloid. Mesoblastic hematopoiesis occurs in extraembryonic structures, principally in the yolk sac, and begins between the 10th and 14th days of gestation. By 6th - 8th week of gestation, the liver replaces the yolk sac as the primary site of blood cell production and by 10 th - 12th week extraembryonic hematopoiesis has essentially ceased. Hematopoiesis occurs in the liver throughout the remainder of gestation, although production begins to diminish during the second trimester as bone marrow hematopoiesis increases. The liver remains as the predominant hematopoietic organ through weeks 20 - 24 of gestation and by 6 th month of gestation, bone marrow gradually become the primary site of hematopoiesis. This phenomenon continue until the child is delivered. As the child start to grow, the sites of hematopoiesis slowly shift to central bones of the body, i.e: vertebrae, sternum, ribs and pelvis while the marrow in extremities and skull replaced with fat

Erythropoiesis in utero is controlled by erythroid growth factors produced solely by the fetus. Erythropoietin (EPO) does not cross the placenta in humans; therefore, stimulation of maternal EPO production does not result in stimulation of fetal red cell production. Moreover, suppression of maternal erythropoiesis by hypertransfusion does not suppress fetal erythropoiesis. The production of red blood cells is governed by a variety of growth factors produced by a variety of accessory cells such as macrophages, lymphocytes, and stromal cells. These cells and cell products make up the erythropoietic microenvironment and stimulate maturation, growth, and differentiation at various stages of red blood cell production. Of all the factors stimulating erythropoiesis, none plays a more important regulatory role than EPO. EPO is a 30-39 kd glycoprotein that binds to specific receptors on the surface of erythroid precursors and stimulates their differentiation and clonal maturation into mature erythrocytes. The regulation of EPO gene expression involves an oxygen-sensing mechanism, and both hypoxia and anemia stimulate erythropoiesis by stimulating mRNA transcription and EPO production. EPO mRNA production is regulated by cis-acting elements in the promoter and 3' enhancer regions that are responsive to hypoxia. Two factors, hepatic nuclear factor 4 (HNF-4) and hypoxic inducible factor (HIF-1), exhibit transcriptional activation for EPO and other hypoxia-inducible genes. HNF-4 has been shown to bind specifically to the EPO promoter and enhancer regions of the gene and is expressed in kidney, liver, and Hep3B cells. HIF-1 is a basic helix-loop-helix transcription factor composed of HIF-1α and HIF-1β subunits that bind to cis-acting hypoxia-response elements and induce EPO transcription. HIF-1 is expressed in many cells and is involved in upregulation of a variety of hypoxically regulated proteins. HIF-1α appears to be constitutively expressed and rapidly degraded under normoxic conditions. HIF-1 regulation occurs through DNA binding and protein stabilization. RNA stability may be dependent on the

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ubiquitin proteasome degradation system; inhibition of this system leads to increased HIF-1 and increased EPO, even under normoxic conditions.

The fetal liver produces EPO during the first and second trimesters, principally by cells of monocyte/macrophage origin. At some time during the third trimester and the first few weeks of life, the anatomic site of EPO production shifts from the liver to the kidney. The specific stimulus for the shift of EPO production from liver to kidney is unknown but might involve the significant changes in arterial oxygen tension that occur at birth.

1.5.2 Hemoglobin

Hemoglobin is a complex protein consisting of iron-containing heme groups and the protein moiety globin. A dynamic interaction between heme and globin gives hemoglobin its unique properties in the reversible transport of oxygen. The hemoglobin molecule is a tetramer made up of two pairs of polypeptide chains, each chain having a heme group attached. The polypeptide chains of various hemoglobins are of chemically different types. The major hemoglobin of a normal adult (Hb A) is made up of one pair of alpha (α) and one pair of beta (β) polypeptide chains and represented as α2β2. The major hemoglobin in the fetus (Hb F) is represented by α2γ2.

Within the RBCs of an embryo, fetus, child, and adult, six different hemoglobins may normally be detected: the embryonic hemoglobins, Gower-1, Gower-2, and Portland; the fetal hemoglobin, Hb F; and the adult hemoglobins, Hb A and Hb A2. The electrophoretic mobilities of hemoglobins vary with their chemical structures. The time of appearance and quantitative relationships among the hemoglobins are determined by complex developmental processes (Figure 1.1).

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Figure 438-2 Changes in hemoglobin tetramers (top) and in globin subunits (bottom) during human development from embryo to early infancy. (From Polin RA, Fox WW: Fetal and

Neonatal Physiology, 2nd ed. Philadelphia, WB Saunders, 1998, p 1769.)

1.5.3 Embryonic Hemoglobin

The blood of early human embryos contains two slowly migrating hemoglobins, Gower-1 and Gower-2, and Hb Portland, which has Hb F-like mobility. The zeta (ζ) chains of Hb Portland and Gower-1 are structurally quite similar to α chains. Both Gower hemoglobins contain a unique type of polypeptide chain, the epsilon (ε) chain. Hb Gower-1 has the structure ζ2ε2, and Gower-2, α2ε2. Hb Portland has the structure ζ2γ2. In embryos of 4-8 week gestation, the Gower hemoglobins predominate, but by the 3rd month they have disappeared.

1.5.4 Fetal Hemoglobin

Hb F contains γ polypeptide chains in place of the β chains of Hb A. Its resistance to denaturation by strong alkali is the basis for determining the presence of fetal RBCs in the maternal circulation (the Kleihauer-Betke test). After the 8th gestational week, Hb F is the

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predominant hemoglobin; at 24 week gestation it constitutes 90% of the total hemoglobin. During the 3rd trimester, a gradual decline occurs, so that at birth Hb F averages 70% of the total. Synthesis of Hb F decreases rapidly postnatally, and by 6-12 months of age only a trace is present. Less than 2.0% can be detected by alkali denaturation in older children and adults.

1.5.5 Adult Hemoglobin

Some Hb A (α2β2) can be detected in even the smallest embryos. Accordingly, it is possible as early as 16th - 20th week gestation to make a prenatal diagnosis of major β-chain hemoglobinopathies, such as thalassemia major. Prenatal diagnosis is based on techniques that examine the rates of synthesis of β chains or the structure of newly synthesized β chains. Earlier diagnosis is possible using molecular biology techniques and sampling of chorionic villus tissue or amniotic fluid if DNA structural defects are a cause of the hemoglobinopathies. Similarly, gene deletion disorders such as the α-thalassemias are detectable by the same method.

By the 24th week of gestation, 5-10% of Hb A is present. A steady increase follows, so that at term, Hb A averages 30%. By 6-12 months of age, the normal Hb A pattern appears. The minor Hb A component Hb A2 contains delta (δ) chains and has the structure α2δ2. It is seen only when significant amounts of Hb A are also present. At birth, less than 1.0% of Hb A2 is seen, but by 12 months of age the normal level of 2.0-3.4% is attained. Throughout life, the normal ratio of Hb A to A2 is about 30:1.

Figure 1.2 Pre- and postnatal changes in the percentage of total hemoglobin represented by fetal hemoglobin (Hb F) (shaded area). The triangles represent postnatal production by reticulocytes in premature infants, and the dots represent cord blood and postnatal reticulocyte production in term infants. (From Brown MS: Fetal and neonatal erythropoiesis. In Stockman JA, Pochedly C

[editors]: Developmental and Neonatal Hematology. New York, Raven Press, 1988.)

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1.5.6 Red Cell Life Span

The differences in physical properties of RBCs derived from term and preterm infants may in part account for the decreased life span of neonatal RBCs within the circulation. The average life span for a neonatal RBC is 60-90 days, approximately one half to two thirds that of an adult RBC. When neonatal RBCs are transfused into adults, they exhibit a shortened life span, owing to alterations intrinsic to the neonatal RBC. In contrast, cells transfused from adult donors appear to survive normally in newborns. With increasing degrees of prematurity, remarkably shorter red cell life spans (35 to 50 days) are found. The shortened red cell life span of the preterm and term neonate may be explained by some of the characteristics specific to newborn cells: a rapid decline in intracellular enzyme activity and ATP, loss of membrane surface area by internalization of membrane lipids, decreased levels of intracellular carnitine, increased susceptibility of membrane lipids and protein to peroxidation, and increased mechanical fragility due to increased membrane deformability.

1.5.7 Mechanism of Anemia Diamond Blackfan

Erythroid precursors in bone marrow are the primary target. As a result, patients can develop a normoblastic normochromic anemia and a virtual absence of reticulocytes.

Injury to stem cells in utero is believed to be the etiology of approximately 90% of cases. This theory is based on evidence that congenital pure red cell aplasia is frequently associated with random physical abnormalities, while it is rarely familial or associated with significant chromosomal abnormalities. However, a familial history of pure red cell aplasia has been detected in approximately 10% of patients with the congenital form of pure red cell aplasia.

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Inherited genetic mutation

Defected erythroid progenitor cells

Increased apoptosis

Decreased erythropoiesis

Low Hemoglobin

Anemia

1.6 Diagnosis

1.6.1 Laboratory findings

- Basic studies include the following:

a) CBC count

b) Platelet count

c) Differential count

d) RBC indices

e) Reticulocyte count

- For congenital pure red cell aplasia, obtain the following:

a) Fetal Hb and erythrocyte adenine deaminase levels

b) Serum folate and vitamin B-12 levels

c) Genetic testing

d) Peripheral smear results - Can show megaloblastic changes

The RBCs are almost always macrocytic for age, but there is no hypersegmentation of neutrophils or other peripheral blood characteristics of megaloblastic anemia. Folic acid and vitamin B12 levels are normal. Chemical evaluation of RBCs reveals an enzyme pattern similar to a "fetal" RBC population, and there is also elevated fetal hemoglobin (Hb F) and increased expression of "i" antigen. Erythrocyte adenosine deaminase (ADA) activity is increased in most patients with this disorder, a finding that helps distinguish congenital RBC aplasia from acquired transient erythroblastopenia of childhood. Also, because elevated ADA activity is not a fetal RBC feature, measurement of this enzyme is helpful in diagnosing Diamond-Blackfan anemia in very young infants. Thrombocytosis or thrombocytopenia and occasionally neutropenia may also be present initially. Reticulocytes are characteristically very low despite severe anemia. RBC precursors in the marrow are markedly reduced in most patients, but other marrow elements are usually normal. Serum iron levels are elevated. Bone marrow chromosome studies are normal and, unlike in Fanconi anemia, there is no increase in chromosomal breaks when lymphocytes are stressed with alkylating agents

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1.6.2 Imaging Studies

- Chest radiograph (posteroanterior and lateral)

- CT scan to rule out a thymoma

- MRI to rule out thymoma

1.6.3 Procedures

Bone marrow aspiration and biopsy are indicated to confirm the diagnosis. Bone marrow biopsy may be useful to assess iron overload. A bone marrow biopsy is indicated to diagnose acute myelogenous leukemia, which can be a complication of immunotherapy. Obtain tissue samples via thoracotomy or mediastinoscopy to rule out thymoma. In some cases, obtaining a liver biopsy sample, with quantitation of iron levels, may be indicated to rule out iron overload.

1.6.4 Histologic Findings

Findings from bone marrow aspirates and biopsy usually reveal a selective depletion in RBC precursors. In congenital pure red cell aplasia, megaloblastosis of RBC precursors may be observed, and, occasionally, a depression in the level of megakaryocyte and WBC precursors occurs.

1.7 Differential Diagnosis.

Congenital hypoplastic anemia must be differentiated from other anemias with low reticulocyte counts. The anemia of hemolytic disease of the newborn can have a protracted course and, on occasion, be associated with markedly reduced erythropoiesis. This usually terminates spontaneously at 5-8 weeks of age. Aplastic anemic crises characterized by reticulocytopenia and by decreased numbers of RBC precursors, frequently caused by parvovirus B19 infections, may complicate various types of chronic hemolytic disease, but usually after the first several months of life. Infection with parvovirus B19 in utero may also cause pure RBC aplasia in infancy, even with hydrops fetalis at birth. The absence of parvovirus B19 detected by polymerase chain reaction (PCR) is now considered an essential feature in establishing the diagnosis of Diamond-Blackfan anemia in young infants. The syndrome of transient erythroblastopenia of childhood may be differentiated from Diamond-Blackfan syndrome by its relatively late onset (although it may occasionally develop in infants younger than 6 months old). In very young infants whose RBCs have many fetal features, a determination of elevated erythrocyte ADA activity is particularly useful because this increased enzyme activity is not a characteristic of fetal RBCs.

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1.8 Treatment

Corticosteroid therapy is beneficial in three fourths of patients who respond initially. The mechanism of its effect is unknown. Prednisone in three divided doses totaling 2 mg/kg/24 hr is used as an initial trial. An increase in RBC precursors appears in bone marrow 1-3 weeks after therapy is begun, and this is followed by peripheral reticulocytosis. The hemoglobin may reach normal levels in 4-6 weeks, although there is much variability in the rate of response. Once the hemoglobin concentration is clearly increasing, the dose of corticosteroid may be reduced gradually by tapering divided doses and then by eliminating all except a single, lowest effective daily dose. This dose should then be doubled, used on alternate days, and tapered still further while maintaining the hemoglobin level at 9 g/dL or above. In some patients, very small amounts of prednisone, as low as 2.5 mg twice a week, may be sufficient to sustain adequate erythropoiesis. Overall, 60% of children with Diamond-Blackfan anemia initially started on steroids stop taking the drug. This occurs because of unacceptable steroid side effects or evolution of steroid refractoriness at acceptable steroid doses, or, occasionally, there is spontaneous remission of anemia.

In patients who do not respond to corticosteroid therapy, transfusions at intervals of 4-8 weeks are necessary to sustain normal growth and activities. Chelation therapy for iron overload with deferoxamine administered subcutaneously through a portable pump should be started when excess iron accumulation is reflected by serum ferritin levels exceeding 1,500 mg/dL, but preferably after 5 years of age, because the medication may interfere with normal growth. An oral iron chelator, deferiprone (L1), is in clinical trials and may be almost as effective as deferoxamine; however, there is some controversy related to possible hepatic toxicity. The drug is licensed for use in Canada, the United Kingdom, and India but not in the United States. Other therapies, including androgens, cyclosporine, cyclophosphamide, antithymocyte globulin (ATG), high-dose intravenous immunoglobulin, high-dose methylprednisolone, EPO, and interleukin-3 have not had a consistent beneficial effect and may have a high incidence of side effects. Splenectomy may decrease the need for transfusion if hypersplenism or isoimmunization develops. Stem cell transplantation from a related histocompatible donor has a role in children who do not respond to corticosteroids and who have demonstrated a several-year need for RBC transfusions. The survival results for matched-related donors have been very encouraging, but the responses have been much inferior with the use of partially mismatched siblings or matched unrelated donors.

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1.9 Prognosis and complications

Median survival is probably more than 40 years old, although definitive data are lacking. The outlook is best in those who respond to corticosteroid therapy. About half of patients are long-term responders. In the others, survival depends on transfusions. Some children in each group may eventually have spontaneous remissions (about 20%), and most of these remissions occur in the first decade. In children who are regularly transfused, total body iron increases and hemosiderosis ensues. The liver and spleen may enlarge, and secondary hypersplenism with leukopenia and thrombocytopenia can occur. The complications of chronic transfusions in Diamond-Blackfan anemia are similar to those in β-thalassemia major, and prevention and treatment of iron overload should be equally aggressive in both groups of transfused patients. Diamond-Blackfan anemia may be a premalignant syndrome, with acute leukemia (usually myeloid) and myelodysplasia occurring in a small fraction (less than 5%) of patients. Solid tumor malignancies also have been reported, in particular osteosarcoma. Other significant causes of death include complications associated with stem cell transplantation, steroid therapy (opportunistic infections), and iron overload.

1.10 Summary

Anemia Diamond Blackfan also known as Congenital Pure Red Cell Aplasia describes a condition in which Red Blood Cell precursors in bone marrow are nearly absent, while megakaryocytes and White Blood Cell precursors are usually present at normal levels. Clinical findings such as pallor, weakness, and dyspnea attributable to the anemia develop during the first year of life. One third of patients may develop physical abnormalities, most often involving the head, upper limbs, thumbs, urogenital system, or cardiovascular system. The most characteristic hematologic features are macrocytic anemia, reticulocytopenia, and a deficiency or absence of red blood cell (RBC) precursors in an otherwise normal cellular bone marrow. This rare condition usually becomes symptomatic in early infancy, often with pallor in the neonatal period, but occasionally may first be noted later in childhood. Over 90% of cases are recognized in the 1st year of life, and the average age of diagnosis is 3 months old.

Laboratory findings such as elevated fetal hemoglobin (Hb F) and increased erythrocyte adenosine deaminase (ADA) activity along with imaging studies and histologic studies help to confirm the diagnosis. Corticosteroid therapy and blood transfusion are among the few treatment options available with patients showing responds to corticosteroid therapy have preferable prognosis.

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Patient’s Status

A patient, J, male, 5 years and 5 months old, 17.5 kg, 113 cm, was admitted to the pediatrics non-infectious unit of Haji Adam Malik General Hospital on 31th May 2011 at 19.45. The main reason he was admitted is because of paleness .Patient was suffering from paleness for the past 1 week. History of bleeding (-), Epistaxis (-), Bloody fecal (-), Hematoma (-). History of high fever (-) and cough (-). Loss of appetite (+) for the past 1 week, Diarrhea (-), Defecation (+) normal and Urination (+) normal.Patient was previously treated by hematooncology unit with the diagnosis of Diamond Blackfan Anemia.

History of previous illness : Patient was previously treated by hematooncology unit with

the diagnosis of Diamond- Blackfan Anemia.

History of previous treatment: Washed PRC transfusion, Folic Acid 1x1mg, Vitamin E 1x

100 IU

On Physical Examination, the following findings were confirmed. Body Weight was 17,5 kg, body height was 113 cm, and body temperature 37.60C.

Physical Examinations:

Level of consciousness : Alert

Anemic (+), cyanosis (-), icteric eyes (-), dyspnoe (-) and edema (-).

Head : Eyes: light reflexes +/+, isochoric pupils,

Inferior conjunctiva palpebra paleness +/+, palpebra oedematous -/-.

Ears : Normal.

Nose : Normal

Mouth: Mucus paleness (+)

Neck : Normal jugular vein pressure, no lymph node enlargement, no nuchal rigidity

Chest : Symmetrical fusiformic, retraction (-)

HR : 140 bpm, regular

RR : 20 tpm, regular, rales (-)

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Abdomen : Soepel, normal peristaltic.

Liver : Palpable 3cm below the right costal arch.

Spleen: Palpable until the range of SII-III.

Extremities : Pulse 140 bpm, regularly, Pressure/Volume was adequate.

Warm extremities. CRP < 3’

Genitalia : Male, there were no abnormalities present

Working Diagnosis : Diamond-Blackfan Anemia + Mild Malnutrition

Therapy :

• Transfusion of washed PRC (1st Bag)

• IVFD D5 NaCl 0,45% (20 gtt/ I, micro)

• O2 1-2 l/i

• Folic Acid 1 x 1 mg

• Vit E 1 x 100 IU.

PRC transfusion requirement : = 4 x (10-3,24) x 17,5

= 473,5 cc = 3 bag@ 175 cc

Transfusion capability : 3cc/KgBW = 3 x 17,5 Kg

= 52,5 cc

= 60 cc/12 jam

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Follow Up : 1st June 2011

DESCRIPTION

SUBJECT Paleness (+) , Fever (-)

OBJECTIVE Sens : CM, T : 37,6 ºC ,BW 17,5 kg, BH 113 cm, present

BW/ ideal BW : 87,5 %. Anemic (+), cyanosis (-), icteric eyes

(-), dyspnoe(-) and edema (-).

Head: Eyes: light reflexes +/+, isochoric pupils,

Inferior conjunctiva palpebra paleness +/+, palpebra oedematous -/-. Ears: Normal , Nose: Normal, Mouth: Mucus paleness (+)

Cardiovascular system: Neck: Jugular Vein Distension

R-2cmH2O, HR = 105 bpm,regular; Pulse pressure/volume adequate

Respiratory System: Symmetrical fusiform (+), retraction (-),

RR= 30 tpm, regular, crackles (-).

GIT System: Abdomen: soepel, peristaltic (+)normal,

Liver : Palpable 3cm below the right costal arch.

Spleen: Palpable until the range of SII-III.

Extremities :Pulse 140 bpm, regularly, Pressure/Volume

was adequate.Warm extremities. CRP < 3’

Assessment Diamond-Blackfan Anemia

Planning Total bed rest

- O2 1-2 l/i

- Folic Acid 1x1 mg

- Vit E 1x100 IU

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Futher examination

-Transfusion 2nd bag of PRC

Follow Up : 2nd June 2011

DESCRIPTION

SUBJECT Paleness (+) ↓ , Fever (-)

OBJECTIVE Sens : CM, T : 37,0 ºC ,BW 17,5 kg, BH 113 cm, present

BB/ ideal BB : 87,5 %. Anemic (+), cyanosis (-), icteric eyes

(-), dyspnoe(-) and edema (-).

Head: Eyes: light reflexes +/+, isochoric pupils, Inferior conjunctiva palpebra paleness +/+, palpebra oedematous -/-. Ears: Normal, Nose: Normal, Mouth: Mucus paleness (+)

Cardiovascular system: Neck: Jugular Vein Distension R=2cmH2O, HR= 128 bpm,regular; Pulse pressure/volume adequate

Respiratory System: Symmetrical fusiform (+), retraction (-),

RR= 28 tpm, regular, crackles (-).

GIT System: Abdomen: soepel, peristaltic (+)normal,

Liver : Palpable 3cm below the right costal arch.

Spleen: Palpable until the range of SII-III.

Extremities :Pulse 140 bpm, regularly, Pressure/Volume

was adequate.Warm extremities. CRP < 3’

Assessment Diamond-Blackfan Anemia

Planning Total bed rest

- O2 1-2 l/i

- Folic Acid 1x1 mg

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- Vit E 1x100 IU

Futher examination

-Transfusion 3rd bag of PRC + Complete blood check

Lab results: Hb/Ht/L/T = 6,4/21,1/7630/370,000

PRC transfusion requirement = (10-6,4) x 17,5 x 4

=252 cc (1 ½ bag)

Transfusion capability = 7x 17,5 = 122,5 cc = 1 bag

Follow Up : 3rd June 2011

DESCRIPTION

SUBJECT Paleness (+) ↓ , Fever (-)

OBJECTIVE Sens : CM, T : 37,0 ºC ,BW 17,5 kg, BH 113 cm, present

BB/ ideal BB : 87,5 %. Anemic (-), cyanosis (-), icteric eyes

(-), dyspnoe(-) and edema (-).

Head: Eyes: light reflexes +/+, isochoric pupils, Inferior conjunctiva palpebra paleness +↓/+↓, palpebra oedematous -/-Ears: Normal, Nose: Normal, Mouth: Normal

Cardiovascular system: Neck: Jugular Vein Distension R=2cmH2O, HR= 100 bpm,regular; Pulse pressure/volume adequate

Respiratory System: Symmetrical fusiform (+), retraction (-),

RR= 20 tpm, regular, crackles (-).

GIT System: Abdomen: soepel, peristaltic (+)normal,

Liver : Palpable 3cm below the right costal arch.

Spleen: Palpable until the range of SII-III.

Extremities :Pulse 100 bpm, regularly, Pressure/Volume

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was adequate.Warm extremities. CRP < 3’

Assessment Diamond-Blackfan Anemia

Planning Total bed rest

- O2 1-2 l/i

- Folic Acid 1x1 mg

- Vit E 1x100 IU

Futher examination

-Transfusion of washed PRC =1 bag

- Post transfusion – check for Hb sahli = 10mg/dl

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References

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Robert M., Md. Kliegman, Hal B., Md. Jenson (editors). Nelson Textbook of Pediatrics 17 th

edition. USA: Elsevier Science; 2004. p1606-1607.

2) Paul Schick, MD. Pure Red Cell Aplasia. 2009. Available at:

http://emedicine.medscape.com/article/205695-overview

3) Sandy Brannan, MSN, RN. Living With Diamond Blackfan Anemia: A Challenge Toward

Survival. In: Dimensions of Critical Care Nursing Vol. 23 / No. 1. 2004. p4-7.

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www.cdc.gov/.../508%20DBA%20Chelation%20Fact%20Sheet.pdf

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Disease Control and Prevention (CDC). 2011. Available at:

www.cdc.gov/ncbddd/.../BBV_PNV_C0_1159_DBA_R2mtr.pdf

8) Diamond Blackfan Anemia: The Disease. Diamond Blackfan Anemia Foundation, Inc.. 2008

Available at: http://www.dbafoundation.org/about.php.

9) Clinton, C, Gazda, HT . Diamond Blackfan Anemia. GeneReviews. 2011 Available at:

http://www.ncbi.nlm.nih.gov/books/NBK7047/

10) Diamond-Blackfan anemia. Genetic and Rare Diseases Information Center (GARD). Available at: http://rarediseases.info.nih.gov/GARD/Condition/6274/DiamondBlackfan_anemia.aspx

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11) Adrianna Vlachos, M.D et al. Diagnosing and Treating Diamond Blackfan Anemia: Results of an International Clinical Consensus Conference. In: British Journal of Hematology Volume 142, Issue 6. United Kingdom: Blackwell Publishing Ltd. September 2008. p859–876.

12) Robin K. Ohls, Robert D. Christensen. Chapter 438 Development of the Hematopoietic System. In: Richard E., Md. Behrman, Robert M., Md. Kliegman, Hal B., Md. Jenson (editors). Nelson Textbook of Pediatrics 17th edition. USA: Elsevier Science; 2004. p1599-1603.

13) Catherine Clinton, MS, CGC. Diamond-Blackfan Anemia. 2009. Available at :

http://www.ncbi.nlm.nih.gov/books/NBK7047/

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