Sickle Cell Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Sickle Cell Anemia, including details on genetics, causes, symptoms.

Hemoglobinopathies mimicking Hb S/beta-thalassemia: Hb S/S with alpha-thalassemia and Hb S/Volga.

Luo HY, Heeney M, Wang WC, Eung SH, Ware RE, Steinberg MH, Chui DH

Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA.

There are approximately 1200 known natural mutations of the human globin genes. In most clinical laboratories, the diagnosis of hemoglobin disorders is based on blood counts, hemoglobin electrophoresis, or column chromatography, which can identify common variant hemoglobins such as Hb S, C, and E, but are unable to definitively diagnose most other hemoglobin variants and thalassemia mutations. We report two unrelated cases, both thought initially to have Hb S/beta-thalassemia. Subsequent mutational analyses revealed that one is Hb S/S with compound heterozygosity for nondeletional alpha-thalassemia mutations. The other is the first reported case of compound heterozygosity for Hb S and an unstable hemoglobin, Hb Volga. Correct diagnoses of these hereditary disorders are needed for prognosis and proper management and also for genetic counseling. These studies underscore the importance to correlate clinical course with laboratory diagnosis and to make DNA-based diagnostics more widely available for patients with unusual or complicated hemoglobin disorders.

Published 26 April 2006 in Am J Hematol, 81(5): 361-5.
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