Israel the chosen few: A case of 42-year-old male with Hemoglobin H Disease / [author] Diaren Marinela G. Bondoc

Includes bibliographical references

ABSTRACT
Thalassemias are group of hemoglobinopathies caused by diminished or absent production of globin chains due to a genetic variant in one or more alpha or beta globin genes. There is ineffective erythropoiesis with intramedullary hemolysis due to this imbalance production of globin chain. Magnitude and severity of anemia and iron overload is due to the ineffective erythropoiesis (1). Increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia are characteristic of Hemoglobin H disease. It is an intermediate form of alpha thalassemia and belongs to the group of non-transfusion-dependent thalassemia (2) Here we report a case of 42 year old male who initially presented with epigastric pain associated with symptoms of shortness of breath upon exertion, easy fatigability. Decreased Mean Concentration Volume (MCV), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC) and increase in Red Cell Distribution Width (RDW) can be seen in Complete Blood Complete (CBC). Early diagnosis of these cases are important to emphasize to patients to facilitate implementation of health care measures for prevention and immediate treatment of potentially serious hemolytic crisis.

Research - Department of Medicine