Q:

What is the most likely underlying disorder?

0

A 38-year-old male immigrant from Thailand is referred for further evaluation of pro-gressive fatigue for the past 2 years . Physical exami nation discloses splenomegaly with no lymphadenopathy. Laboratory workup reveals hemoglobin of 8.2 g/dl. mean cor- puscular vol ume (MCV) of 6LJ fl. leukocyte count of LJ .900/JLL. platelet count of 1 58 .000/JLL. and ferritin level of LJ 62 ng/ml. Hemoglobin electrophoresis reveals HbE 58% and HbF LJ2%. Peripheral smear is shown below.

What is the most likely underlying disorder?


  1. Hemoglobin E trait (heterozygous, HbAE)
  2. HbE/beta0 -thalassemia
  3. Hemoglobin E disease (homozygous, HbEE)
  4. Sickle cell disease (HbSS)
  5. HbS/beta-thalassemia

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B. Peripheral slide reveals many target (codocytes)-shaped microcytic hypochromic red

 

blood cells (RBC). There is no evidence of sickled RBCs. Elevated ferritin level rules out iron defi-ciency as a cause of the anemia. Hemoglobin E trait (heterozygous) cases usually present with nor-mal hemoglobin, but exhibit mild microcytosis and hypochromia, and hemoglobin electrophoresis would reveal a smaller amount of HbE (30%), normal level of HbF, and HbA of 70%. Patients with hemoglobin E disease (homozygous) exhibit mild degree of anemia with microcytosis, hypochromia, and target cells. Hemoglobin electrophoresis reveals much higher HbE levels (90%). Cases of HbE/beta-thalassemia exhibit moderate to severe microcytosis with hypochromia and the presence of target cells. Hemoglobin electrophoresis shows elevated HbF levels ( 40%), with the remaining being HbE (60%). The etiology of the increased levels of HbF in HbE/beta0-thalassemia appears to relate to survival advantage of erythroid progenitors committed to HbF synthesis in the highly stim-ulated bone marrow environment. Blood transfusions have been shown to decrease HbF levels rela-tive to HbE by decreasing erythropoietin levels and bone marrow stimulation (Blood. 1 999;94(9 ):3199, Hematol Oneal Clin North Am. 20 10;24(6): 1 055, Hematology Am Soc Hematol Educ Program. 2007; Hemoglobin E Syndromes:79).

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