2. Patient
O A 16 year old Cambodian boy with fever,
abdominal pain, nausea, vomiting,
headache, and a sore throat for several
days.
3. Clinical History
O 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.
4. Family History
O Mother is known to have “mental
problems”, the exact nature of which is
unknown. A sister and a brother have no
medical problems.
5. Physical Examination
O Very lethargic but arousable
O Temperature was 101°F
O Pulse 120/min
O Respiratory rate 30/min
O Blood pressure 120/80 mmHg
O Weight 41.2 kg
O Height 165 cm
O Sclerae were icteric
6. Physical Examination
O Dry mucus membranes
O Clear lungs
O Heart murmur
O Liver was palpable
O Splenomegaly
9. Initial Work Up
Additional 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
10.
11. Given the initial presentation
findings, what clinical conditions
would you include in the
differential diagnosis of this case?
O Malaria
O Autoimmune hemolytic anemia
O Iron deficiency anemia
O β- thalassemia
O α- thalassemia
O Hepatitis B
12. 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 electrophoresis
O Brilliant cresyl blue test to detect the
presence of hemoglobin H inclusions
O Molecular diagnostic studies using DNA
O Stool culture
13. Results of Additional Work-Up
O Blood smears were negative for malaria
O Direct and indirect antiglobulin (Coombs) test
were negative
O 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
14. Results of Additional Work-Up
O Examination of stool culture was positive
for Yersinia enterocolitica
O Brilliant cresyl blue stain:
15. Final Diagnosis
O This patient has Hb H disease (--/-α) with
Yersinia enterocolitis and hepatitis B
16. Outline the course of
management for this patient
and/or the condition
O 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.
17. Salient Features of Hb H Disease
O Microcytic, hypochromic anemia
O Splenomegaly
O Mild jaundice
O Skeletal changes mainly affecting the face
O Iron hyper absorption
O Presence of Hb H (5-40%)
O Hemoglobin H inclusions
18. References
O Ciesla, Betty (2007). Hematology in
Practice. Philadelphia: F.A. Davis
Company
O Harmening, Denis M. (1997 & 2009).
Clinical Hematology and
Fundamentals of Hemostasis.
Philadelphia: F.A. Davis Company
O Turgeon, Mary Louise (1993). Clinical
Hematology. Boston: Little, Brown,
and Company
