A 28-year-old Asian woman comes to the physician to establish care. She has no specific complaints. Her past medical history is significant for menorrhagia treated successfully with medroxyprogesterone for 2 years and lactose intolerance. She was also previously advised to take iron supplements but developed constipation and abdominal cramping and stopped taking them.
Vital signs and physical examination are within normal limits.
Laboratory results are as follows:

A hemoglobin electrophoresis shows hemoglobin A 98%, hemoglobin F 0%, and A2 2%.
Which of the following is the most likely diagnosis?

Question

A 28-year-old Asian woman comes to the physician to establish care.  She has no specific complaints.  Her past medical history is significant for menorrhagia treated successfully with medroxyprogesterone for 2 years and lactose intolerance.  She was also previously advised to take iron supplements but developed constipation and abdominal cramping and stopped taking them.
Vital signs and physical examination are within normal limits.
Laboratory results are as follows:

A hemoglobin electrophoresis shows hemoglobin A 98%, hemoglobin F 0%, and A2 2%.
Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_983b_3fe8_853d_61dc31a38064_MD0002_00 This Asian patient's microcytic anemia is most consistent with alpha-thalassemia trait. Alpha-thalassemia is more common in Asians, and beta-thalassemia is more prevalent in patients of Mediterranean descent. The degrees of symptoms in alpha-thalassemia vary according to the number of absent alpha-globin chains. alpha-thalassemia trait Alpha- and beta-thalassemia traits usually have normal to increased total iron and ferritin due to high cell turnover; total iron-binding capacity is normal. Other findings include hematocrit > 30%, microcytic and hypochromic red blood cells (mean corpuscular volume < 75 fL), family history of microcytic anemia, and increased target cells on peripheral smear. In addition, the red cell distribution width (RDW) is normal as all red cells are microcytic and hypochromic. Iron deficiency has low iron and ferritin, increased total iron-binding capacity, mean corpuscular volume < 80 fL only if hematocrit < 30%, and elevated RDW due to varying stages of microcytic and normocytic cells. Iron deficiency usually has fewer target cells (Choice B). Hemoglobin electrophoresis is generally normal in alpha-thalassemia trait and requires no therapy as patients are generally asymptomatic. Iron supplementation is not required as patients are not iron deficient. Genetic counseling should be offered due to the complex inheritance patterns for thalassemia. (Choice A) High oxygen affinity hemoglobin disorders reflect rare mutations in globin genes of the hemoglobin molecule. High affinity to oxygen impairs oxygen delivery to tissue and thereby stimulates erythropoietin production to increase the red cell mass, causing erythrocytosis. (Choice C) An underlying myelodysplastic syndrome usually presents in the peripheral blood as cytopenia. Anemia is usually macrocytic and ranges from very mild to severe. (Choice D) Smoldering multiple myeloma (asymptomatic multiple myeloma) usually presents with serum monoclonal protein > 3 g/dL or 10%-60% plasma cells in the bone marrow. Patients usually have no significant anemia, lytic lesions, hypercalcemia, or end-organ damage (eg, renal insufficiency). Educational objective: Alpha- and beta-thalassemia trait usually presents with microcytic and hypochromic anemia often confused with iron deficiency anemia. However, thalassemia trait usually has normal (or increased) iron and ferritin stores with mild anemia and normal red cell distribution width. Hemoglobin electrophoresis helps distinguish among the various forms of thalassemia. __________ References: How I treat thalassemia. (http://www.ncbi.nlm.nih.gov/pubmed/21813448) Changes in the epidemiology of thalassemia in North America: a new minority disease. (http://www.ncbi.nlm.nih.gov/pubmed/16291734) Thalassemia. (http://www.ncbi.nlm.nih.gov/pubmed/15561674)

A 28-Year-Old Asian Woman Comes to the Physician to Establish