Severity differences in β-thalassaemia/haemoglobin E syndromes: implication of genetic factors
ชื่อเรื่อง
Severity differences in β-thalassaemia/haemoglobin E syndromes: implication of genetic factors
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ผู้สร้าง/เจ้าของผลงาน
Winichagoon, Pranee
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Thonglairoam, Varaporn
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Fucharoen, Suthat
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Wilairat, Prapon
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Fukumaki, Yasuyuki
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Wasi, Prawase
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หัวเรื่อง
Hematology
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คำอธิบายรายละเอียดของเอกสาร
This study was partially supported by the U.S. Public Health research grant HL 34408 from the National Heart, Lung, and Blood Institute and the Commission of the European Communities, Science and Technology for the Development Program. contract No. TS2.013 1 .TH(H). Pranee (Winichagoon) Fucharoen was supported by JSPS Ph.D. dissertation (Ronpaku) program.
บทคัดย่อ
Genetic factors determining the difference in severity of anaemia in β-thalassaemia/HbE disease were studied in 90 patients who had haemoglobin levels, at steady state, ranging from 4.2 to 12.6 g/dl. Co-inheritance of α-thalassaemia 2 and haemoglobin Constant Spring could significantly decrease the severity of the disease. Inheritance of a β-thalassaemia chromosome with Xmn I cleavage site at position — 158 of the Gγ-globin gene which was linked to the haplotype - + - ++ or ++ - ++, was associated with a milder anaemia. Two copies of these alleles were necessary to produce a significant clinical effect. Increased expression of the Gγ-globin gene and higher production of haemoglobin F. which could reduce the overall globin chain imbalance, were also associated with homozygosity for the Xmn I cleavage site and thus with less severe anaemia. However, this effect was not seen in Xmn I site heterozygotes. Whether the effects of the Xmn I polymorphism, HbF concentration and Gγ/Aγ ratio act separately or through common mechanisms in reducing anaemia remains to be ascertained.
ผู้ร่วมงาน
Division of Haematology, Department of Medicine, Faculty of Medicine, Siriraj Hospital
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Thalassaemia Centre, Division of Haematology, Faculty of Medicine, Siriraj Hospital
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Department of Biochemistry, Faculty of Science, Mahidol University
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Research Laboratory for Genetic Information, Kyushu University, Fukuoka 812, Japan
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Division of Haematology, Department of Medicine, Faculty of Medicine, Siriraj Hospital
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ปีที่ผลิตเอกสาร
วันที่บันทึกข้อมูล
2023-05-03
ประเภท
Article
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รูปแบบ
ขนาดหรือจำนวนของเอกสาร
7 pages
ต้นฉบับ/แหล่งที่มาของเอกสาร
British Journal of Haematology ; volume 83, issue 4, page 633-639
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รหัส หรือตัวบ่งชี้เอกสาร
ขอบเขต
เจ้าของลิขสิทธิ์
John Wiley & Sons, Inc.
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