Cord blood study on β-thalassemia and hemoglobin E
ชื่อเรื่อง
Cord blood study on β-thalassemia and hemoglobin E
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ผู้สร้าง/เจ้าของผลงาน
Pootrakul, Sa-Nga
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Muang-sup, Vanna
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Fucharoen, Suthat
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Wasi, Prawase
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Optiz, John M.
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Reynolds, James F.
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หัวเรื่อง
Genetics (clinical)
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คำอธิบายรายละเอียดของเอกสาร
This work was supported by Thai National Research Council and in part by the US Public Health research grant HL 34408 from the National Heart, Lung and Blood Institute.
บทคัดย่อ
We describe hematologic data from 18 newborn infants including follow-up data. Of these, ten were the offspring of patients with β-thal/Hb E disease and the remainder were infants who were found to have a decrease in red cell osmotic fragility during a random cord blood examination. The results of the cord blood study showed that two infants having normal red cell osmotic fragility with about 2% Hb E + Hb A + Hb F at birth represented Hb E heterozygosity. Eleven babies had slightly decreased red cell osmotic fragility, a mild degree of microcytosis and poikilocytosis, and hemoglobin types of Hb A + Hb F with no elevation of Hb A2 at birth. They subsequently had hematologic findings consistent with the β-thal heterozygosity. The means of hematological values of cord blood in the β-thal trait infants appeared to be statistically different from those in the normal infants only with respect to increased red cell count and reduced MCH. One infant was thought to have the β-thal trait but had a greater degree of thalassemic changes in red cells; subsequently he turned out to have homozygous β-thalassemia. Four newborn infants with hypochromia and numerous target cells had 4-7% Hb E + Hb F without Hb A. Follow-up examination showed two cases of Hb E homozygosity; however, the others, who had obvious microcytosis and poikilocytosis in cord blood, finally developed β-thal/Hb E disease. Thus, a careful study on red cell osmotic fragility, morphology and starch gel electrophoresis at birth allows detection and diagnosis of β- thal heterozygosity, β-thal homozygosity, Hb E heterozygosity, Hb E homozygosity and double heterozygosity for β-thal and Hb E.
ผู้ร่วมงาน
Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University
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Thalassemia Center, Division of Hematology, Department of Medicine, Siriraj Hospital
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ปีที่ผลิตเอกสาร
วันที่บันทึกข้อมูล
2023-05-02
ประเภท
Article
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รูปแบบ
ขนาดหรือจำนวนของเอกสาร
9 pages
ต้นฉบับ/แหล่งที่มาของเอกสาร
American Journal of Medical Genetics ; volume 29, issue 1, page 49-57 ; ISSN 0148-7299 1096-8628
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รหัส หรือตัวบ่งชี้เอกสาร
ขอบเขต
เจ้าของลิขสิทธิ์
John Wiley & Sons, Inc.
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