Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Anemia, including details on symptoms, diagnosis, diet, treatment, causes. | ||||||||
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Thalassemia intermedia associated with the Hb Constant Spring EE Bart's disease in pregnancy: a molecular and hematological analysis.Fucharoen S, Fucharoen G, Sae-ung N, Sanchaisuriya K Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, 40002, Thailand. supan@kku.ac.th We defined the molecular basis and analyzed hematological phenotype associated with an unusual form of thalassemia intermedia caused by interaction of the hemoglobin Constant Spring (Hb CS), homozygous Hb E and alpha degrees -thalassemia found in two unrelated pregnant Thai women. Both patients had moderate anemia and characteristic of thalassemia intermedia. Hb-HPLC analysis demonstrated in both cases, Hb E and Hb Constant Spring with 3-4% Hb Bart's. Hb F was marginally elevated (3-5%). Both of them were diagnosed hematologically as the Hb CS EE Bart's disease. DNA analysis revealed the homozygosity for Hb E in both cases and identified the Hb CS mutation in trans to the alpha degrees -thalassemia allele with the SEA deletion in one case and with the Thai deletion in another. The appearance of Hb-HPLC peak resembling the Hb CS in peripheral blood of the two cases indicated the ability to form a tetrameric Hb molecule between alpha(CS) and beta(E) chains leading to a hybrid Hb namely the Hb E-CS (alpha2(CS)beta2(E)) with similar characteristics to Hb CS (alpha2(CS)beta2(A)). Hematological data of the patients were presented comparatively with other forms of related disorders in our series including 2 Hb H/Hb EE diseases, 16 homozygous Hb CS with and without Hb E, 14 Hb H diseases and 35 Hb H-CS diseases. Different genotype-phenotype correlations observed in these Thai patients with these disorders are illustrated. Published 6 August 2007 in Blood Cells Mol Dis, 39(2): 195-8.
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