Hemoglobin H Disease; First Case of Hemoglobin H Variant Type (-α3.7/ --SEA) in Costa Rica
DOI:
https://doi.org/10.51481/amc.v52i3.664Keywords:
hemoglobin H, alpha-thalassemia, hemolytic anemiaAbstract
Hemoglobin H (Hb H) disease is the most common form of thalassemia intermedia and has many features that require careful consideration in its management. In the majority of cases, the disease results from double heterozygosity for α0thalassemia due to deletions that remove both linked αglobin genes on one chromosome 16, and deletional α+ from single α-globin gene deletions on the other chromosome 16 resulting in a (--/-α) condition. The excess β globin chain precipitates and forms a characteristic abnormal hemoglobin: hemoglobin H a β globin tetramer (β4). In a steady state, patients with Hb H disease have hemoglobin levels around 9 to 10 g/dL however, during a hemolytic crisis, which frequently occur in or after acute infections causing high fever, the hemoglobin may drop significantly and the patients can develop shock or renal shutdown. Even though splenectomy leads to significant elevation of hemoglobin levels, it is not recommended because the majority of patients do well with said steady-state hemoglobin levels. We present here the first case of hemoglobin H (-α3.7/ --SEA) southeast Asia variant described in Costa Rica.
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