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• W2562252415 abstract "Summary Introduction Bahrain has high prevalence rates of sickle cell and thalassemia in the population. This study reports the frequencies and phenotypic characteristics of α‐ and/or β‐thalassemia associated with sickle‐cell disease ( SCD ) in a tertiary care hospital. Methods Adult SCD patients ( n = 200) were screened for the common α‐ and β‐thalassemia alleles prevalent in the region using molecular techniques. Results of CBC , hemoglobin analysis, and average annual frequencies of severe pain episodes and numbers of transfused red cell units were documented. Results Patients were grouped on the basis of molecular studies as sickle‐cell anemia ( SS , n = 131), SS /α‐thalassemia with three normal genes ( n = 27), SS /α‐thalassemia with two normal genes ( n = 11), sickle–β‐thalassemia (Sβ, n = 23), and Sβ with co‐inherited α‐thalassemia ( n = 8). Identified α‐thalassemia determinants were −α 3.7 ( n = 52), −α 4.2 ( n = 4), α T‐Saudi α ( n = 1), and α Hph α ( n = 1). All β‐thalassemia alleles were β 0 defects. Sickle–thalassemia association resulted in higher hemoglobin, hematocrit, and erythrocyte counts with reduced MCV and reticulocytes. Significant clinical associations were as follows: increased severe pain frequency with α‐thalassemia (three‐gene group); red cell transfusion with β‐thalassemia alleles and female gender. Conclusion One‐third of patients with SCD co‐inherited α‐ and/or β‐thalassemia alleles and these associations explained some of the observed phenotypic variability. A low prevalence of nondeletion α‐thalassemia alleles was observed in these patients. The most significant disease amelioration occurred in SCD associated with two α‐thalassemia alleles." @default.
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• W2562252415 date "2016-12-16" @default.
• W2562252415 modified "2023-10-17" @default.
• W2562252415 title "Frequencies and phenotypic consequences of association of α‐ and β‐thalassemia alleles with sickle‐cell disease in Bahrain" @default.
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• W2562252415 doi "https://doi.org/10.1111/ijlh.12577" @default.
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