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Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga
Author(s) -
Luo HongYuan,
Heeney Matthew,
Wang Winfred C.,
Eung Shawn H.,
Ware Russell E.,
Steinberg Martin H.,
Chui David H.K.
Publication year - 2006
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20562
Subject(s) - thalassemia , hemoglobin variants , hemoglobin , hemoglobinopathy , compound heterozygosity , loss of heterozygosity , medicine , beta thalassemia , hemoglobin electrophoresis , hemoglobin e , genetics , hemolytic anemia , biology , mutation , pediatrics , gene , allele
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/β‐thalassemia. Subsequent mutational analyses revealed that one is Hb S/S with compound heterozygosity for nondeletional α‐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. Am. J. Hematol. 81:361–365, 2006. © 2006 Wiley‐Liss, Inc.