anemia 4 hemolytic congenital

1Learn…ignorance will disappear of itself…!

….. foundation of clinical medicine

Shashidhar Venkatesh MurthyA/Prof & Head of PathologyCollege of Medicine & Dentistry

Clinical Pathology: RBC 1.4: Congenital Hemolytic Anemia

Pathogenetic Classification of Anemia: Decreased Production: Nutrient Deficiency.

Iron def (IDA) / Megaloblastic (MBA) Hemopoietic cell defect:

Anemia of chronic disorders (ACD) Aplastic anemia (AA). Dysplastic anemia. Myelodysplastic Syndromes

Increased loss / destruction: Blood loss anemia – Acute / Chronic - bleeding. Hemolytic anemia – Congenital / Acquired.

Acquired / External injury. Immune AIHA (Warm/Cold) Mechanical, Drugs & Parasites

Congenital / Internal RBC defect Defective Membrane: Hereditary Spherocytosis. Defective Hemoglobin: Sickle & Thalassemia Deficient Enzyme: G6PD deficiency anemia.

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3•Cell Mem•Hb.•Enzymes

Hereditary Spherocytosis: Spectrin deficiency*

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1. Chronic hemolytic anemia (from birth or late)2. Plenty of spherocytes. (more than in WAHA)3. Massive splenomegaly.4. Cholecystitis and cholelithiasis5. Aplastic, megaloblastic or hemolytic crisis

(Comb’s test negative)

Hereditary Spherocytosis:

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Normal spleen size of a fist…! Splenomegaly

Splenectomy: Therapy for severe HS

G6PD Deficiency: Oxidative hemolysis1. G6PD deficiency.2. Oxidative damage (old RBC)3. Heinz bodies (globins)4. Bite & blister cells (dry RBC*)5. Episodic Hemolysis.6. Splenomegaly, gall stones..

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"Thinking should become your capital asset, no matter whatever ups and downs come across in your life.

― Dr. APJ Abdul Kalam, Former President of India..

Hemoglobin Disorders:

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Physiologic anemia – change from Hb F to Hb A.

Hb A α2β2 - 97%Hb A2 α2δ2 - 2.5%Hb F α2γ2 - <1%

HbF HbA

Hb F - α2γ2- 75% Hb A - α2β2 25%

Congenital Hb. disorders: Globin chain*• Qualitative: Hemoglobinopathy eg. Sickle• Quantitative: Thalassemia syndromes.

Hb Electrophoresis:

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-Patient

Hb-SHb-FHb-A

Hb Barts(β4)

+

ControlA B C D

αThalNormal

αThal+Sickle.

Sickle

New born Screening

Thalassemia Pathologenesis

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• Heinz bodies.• Basophilic stippling.

Normal Hb. - micro/hypo Destruction - Hemolysis. Marrow Hyperplasia. Iron - Hemochromatosis

Trait - Minor - Major

Thalassemia:

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Quantitative - globin deficiency. Defective globin chain

synthesis. α, β, , , … types. normal Hb & Abnormal globin

complexes. α thal α Hb excess β

forms abnormal tetramers (Heinz bodies, basophilic stippling etc)

Minor: Normal / mild anemia. micro hypo, target cells.

Major: severe Haemolytic anemia (transfusion dependent)

Minor / Trait

Major / Disease

"Thinking should become your capital asset, no matter whatever ups and downs come across in your life.

― Dr. APJ Abdul Kalam, Former President of India..

Sickle Cell Anemia: Hemoglobinopathy.

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Acute Chest Syndrome

Sickle Cell Anemia

Sickle Cell Disease:Clinical Features:

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1. Anemia2. Jaundice3. Gall stones4. Leg Ulcers5. Auto-splenectomy.6. Crisis*

Splenic atrophy – (Auto-infarction)

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