An 18-year-old boy had a CBC performed as part of a college physical

observation

Educational Objective:

Manage thalassemia minor.

Key Point:

Often characterized by mild microcytic anemia, beta thalassemia minor does not generally require treatment, whereas patients with beta thalassemia major require transfusion.

Explanation:

In this case, observation is the appropriate management approach for beta thalassemia minor.

Thalassemias are genetic disorders distinguished by abnormal hemoglobin chains. In alpha thalassemia, the alpha chains are reduced or absent. In beta thalassemia major, both genes for beta hemoglobin are defective, and there is severe anemia evident in infancy and accompanied by delayed growth and other abnormalities. It is treated with lifelong transfusion, often resulting in iron overload and the need for chelation. In beta thalassemia minor, or thalassemia trait, only one gene defect is present, and patients are often asymptomatic, perhaps having mild microcytic anemia. Patients with beta thalassemia minor require no treatment.

Transfusion with PRBCs and sometimes hemopoietic stem cell transplantation are treatments for beta thalassemia major. With many transfusions, iron overload is an additional risk for patients with beta thalassemia major.

References:

Capellini MD. The Thalassemias (Chapter 162). In: Goldman L, Schafer A. Goldman-Cecil Medicine. 25th ed., 2016:1089-1095.

Sayani FA, Kwiatkowski JL. Increasing prevalence of thalassemia in America: implications for primary care. Ann Med. 2015;47:592-604.