hemoglobin h disease
TRANSCRIPT
PatientO A 16 year old Cambodian boy with
fever, abdominal pain, nausea, vomiting, headache, and a sore throat for several days.
Clinical HistoryO The family came to the United States
about 2 months before the onset of the present illness. The patient never had a similar episode in the past. He had no history of malarial infection and no history of anemia or blood transfusion. He is not taking any medication.
Family HistoryO Mother is known to have “mental
problems”, the exact nature of which is unknown. A sister and a brother have no medical problems.
Physical ExaminationO Very lethargic but arousableO Temperature was 101°FO Pulse 120/minO Respiratory rate 30/minO Blood pressure 120/80 mmHgO Weight 41.2 kgO Height 165 cmO Sclerae were icteric
Physical ExaminationO Dry mucus membranesO Clear lungsO Heart murmurO Liver was palpableO Splenomegaly
Initial Work UpCBC
WBC (x 103/µL) 15.6 ↑
RBC (x 106/µL) 4.22 ↓
HGB (g/dL) 7.7 ↓
HCT (%) 24.9 ↓
MCV (fL) 59 ↓
MCH (pg) 18.2 ↓
MCHC (g/dL) 30.9 ↓
PLT (x 103/µL) 425 ↑
RDW (%) 17.9 ↑
Initial Work UpWBC Differential
Segs 75 ↑
Bands 5 WNL
Lymphocytes 10 ↓
Monocytes 11 ↑
Eosinophils 0 WNL
Basophils 0 WNL
Initial Work UpAdditional Tests
Serum ferritin 550 ng/mL ↑
Total serum bilirubin
5.3 mg/dL ↑
LDH 380 IU/L ↑
Alkaline phosphatase
179 IU/L ↑
Hepatitis B surface antigen
Negative
Hepatitis B core antibody
Positive
Peripheral Blood Smear
Anisocytosis
Poikilocytosis
Microcytic, hypochromic RBCs
Occasional target cells
Given the initial presentation findings, what clinical
conditions would you include in the differential diagnosis of
this case?O MalariaO Autoimmune hemolytic anemiaO Iron deficiency anemiaO β- thalassemia O α- thalassemiaO Hepatitis B
What additional work-up will help you arrive at a final diagnosis?
O Examination of thin and thick blood smears for malaria
O Direct and indirect antiglobulin (Coombs) tests
O Hemoglobin electrophoresisO Brilliant cresyl blue test to detect the
presence of hemoglobin H inclusionsO Molecular diagnostic studies using DNAO Stool culture
Results of Additional Work-Up
O Blood smears were negative for malariaO Direct and indirect antiglobulin (Coombs)
test were negativeO Rules out autoimmune hemolytic disorder
O Hemoglobin electrophoresis showed presence of hemoglobin A (81.7%), hemoglobin H (15%), hemoglobin A2 (1.3%), and hemoglobin F (2%)
O Molecular diagnostic studies using DNA showed that his α genotype was (--/-α), which is consistent with Hb H disease
Results of Additional Work-Up
O Examination of stool culture was positive for Yersinia enterocolitica
O Brilliant cresyl blue stain:
Outline the course of management for this patient
and/or the conditionO The course of management for Hb H
disease would be possible splenectomy, supportive therapy, and blood transfusions.
O This patient gradually improved with symptomatic and supportive therapy.
O He received a blood transfusion with two units of blood which subsided his fever and raised his hemoglobin.
Salient Features of Hb H Disease
O Microcytic, hypochromic anemiaO Splenomegaly O Mild jaundiceO Skeletal changes mainly affecting
the faceO Iron hyper absorptionO Presence of Hb H (5-40%)O Hemoglobin H inclusions