Thalassemia intermedia associated with the Hb Constant Spring EE Bart's disease in pregnancy: a molecular and hematological analysis.

Abstract

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.

• Authors: Supan Fucharoen, Goonnapa Fucharoen, Nattaya Sae-ung, Kanokwan Sanchaisuriya
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) 2007 Sep-Oct Vol. 39 Issue 2 Pg. 195-8 ISSN: 1079-9796 [Print] United States
• PMID: 17587614 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins
• Hemoglobins, Abnormal
• hemoglobin Bart's
• Hemoglobin Constant Spring

Topics

• DNA Mutational Analysis
• Female
• Genotype
• Hemoglobins (analysis)
• Hemoglobins, Abnormal (genetics)
• Humans
• Phenotype
• Pregnancy
• Pregnancy Complications, Hematologic (diagnosis, genetics)
• Thailand
• Thalassemia (diagnosis, genetics)