A 36-year-old African American male presents for further evaluation of mild anem ia. Patien t reports feeling well and is active in several types of sports with no limitation . There is no h istory of bleeding or episodic bone pai n. Physical examination reveals no hepatosplenomegaly or lymphadenopathy. Laboratory evaluation reveals hemoglobin level of 1 2 .1 g/dl, mean corpuscular volume (MCV) of 62 fl, red blood cel l count of 6, 1 00,000/pl, and platelet count of 25LJ,OOO/pl. Hemoglobin electrophoresis was performed and revealed a normal pattern . Peripheral smear is shown below.
Your patien t recommends you to one of h is relatives with a similar life-long h istory of anemia. Physical examina tion discloses splenomegaly. Evaluation of his relative reveals hemoglobin of 8.LJ g/dl, RBC count of LJ ,900,000/fLL, MCV of 65 FL. and platelet count of 361 , 000/ fLL. Peripheral blood smear is shown below. On methylene blue stain ing, RBC exhibited the appearance of golf bal ls.
What is the most likely diagnosis?
- HbH disease
- Beta thalassemia major
- Iron-deficiency anemia
- Myelofibrosis
- G6PD deficiency
Medicine
A. HbH disease results from deletion of 3 alpha globin genes and presents as a more severe hypochromic microcytic anemia with underlying hemolysis and splenomegaly. Patients may require RBC transfusion support, and secondary iron overload is common. Peripheral blood staining with methylene blue reveals the typical golf ball appearance of RBC secondary to precipitated HbH.
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