Case StudyAlana Saldana

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:

Final DiagnosisO This patient has Hb H disease (--/-α)

with Yersinia enterocolitis and hepatitis B

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

ReferencesO 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