| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2828115 | Blood Cells, Molecules, and Diseases | 2007 | 4 Pages |
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 α°-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 α°-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 αCS and βE chains leading to a hybrid Hb namely the Hb E-CS (α2CSβ2E) with similar characteristics to Hb CS (α2CSβ2A). 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.
