کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9372308 | 1273081 | 2005 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mild-phenotype sickle cell disease: molecular basis, clinical presentation and management recommendations
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
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چکیده انگلیسی
Although sickle cell disease (SCD) is monogenic, its clinical presentation is highly heterogeneous. Many of the modulating factors are genetically determined while others are environmental. The β-globin gene haplotype, level of fetal haemoglobin and co-inheritance of α-thalassaemia trait are some of the genetic factors. Many SCD patients in the Arabian Peninsula have the Arab/India haplotype and are characterized by elevated Hb F levels. They tend to have a mild phenotype, presenting with fewer pain episodes and less anaemia. Stroke, leg ulcers, acute chest syndrome, priapism and early splenic dysfunction are uncommon. Management of acute episodes does not differ from usual recommendations, but the use of routine penicillin prophylaxis to prevent pneumococcal sepsis may not be mandatory.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Current Paediatrics - Volume 15, Issue 1, February 2005, Pages 57-61
Journal: Current Paediatrics - Volume 15, Issue 1, February 2005, Pages 57-61
نویسندگان
Adekunle D. Adekile,