You are treating a patient who presents with microcytic anemia. Additional microscopic findings demonstrate the presence of inclusion bodies in the red blood cells. Electrophoresis of erythrocyte protein extracts shows a large excess of b-globins and a near complete lack of a-globins. Which of the following disorders most closely correlates to your findings?
A) hemoglobin H disease
B) hereditary persistence of fetal hemoglobin
C) hydrops fetalis
D) sickle cell anemia
E) b-thalassemia major

Question

Quizplus · Accepted Answer

Hemoglobin H disease is characterized by the presence of inclusion bodies in red blood cells, microcytic anemia, and an excess of beta-globins due to a deficiency in alpha-globin production.  The a-thalassemias result when there is reduced expression at one or both of the a-globin genes. In the a-thalassemias, normal amounts of b-globins are made. The b-globin proteins are capable of forming homotetramers (b4) and these tetramers are called hemoglobin H, HbH. An excess of HbH in red blood cells leads to the formation of inclusion bodies commonly seen in patients with a-thalassemia. In addition, the HbH tetramers have a markedly reduced oxygen-carrying capacity. In b-thalassemia, where the b-globins are deficient, the a-globins are in excess and will form a-globin homotetramers. The a-globin homotetramers are extremely insoluble which leads to premature red cell destruction in the bone marrow and spleen. Clinically this is referred to as hemoglobin H disease

You Are Treating a Patient Who Presents with Microcytic Anemia