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

American Journal of Hematology
Hong-Yuan LuoDavid H K Chui

Abstract

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.

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Nov 16, 2004·Journal of Pediatric Hematology/oncology·Hong-Yuan LuoDavid H K Chui

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Citations

Oct 14, 2006·European Journal of Haematology·B Anders R AnderssonDavid H K Chui
Jun 7, 2007·Pediatric Blood & Cancer·Venée N TubmanMatthew M Heeney
Aug 24, 2010·Pediatric Blood & Cancer·Amber M YatesRussell E Ware
May 9, 2007·Hemoglobin·Hong-Yuang LuoDavid H K Chui

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