Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin.
Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin.
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DOI：
10.1111/j.1365-2141.2011.08916.x
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发表时间：
2012-01
影响因子：
6.5
通讯作者：
Chui DH
中科院分区：
文献类型：
--
作者：
Ngo DA;Aygun B;Akinsheye I;Hankins JS;Bhan I;Luo HY;Steinberg MH;Chui DH
镰状血红蛋白（HbS）和胎儿血红蛋白（HPFH）的遗传持续性复合杂合子具有高胎儿血红蛋白（HbF）水平，但很少（如果有的话）镰状细胞病相关并发症。我们研究了30例经分子分析证实的HbS-HPFH（1型和2型），并报告了血液学特征和HbF水平随时间的变化。将这些结果与镰状细胞贫血或HbS-β0地中海贫血患者的结果进行比较，包括携带已知与HbF升高相关的XmnI多态性的患者亚组。在HbS-HPFH患者中，婴儿期HbF水平为50-90%，在生命的最初几年内急剧下降，在3至5岁之间稳定在约30%。5岁或5岁以上个体的平均HbF为31 ± 3%，平均血红蛋白浓度为130 ± 10 g/l，平均红细胞体积（MCV）为75 ± 4 fl。单变量和多变量回归分析显示HbF与年龄、血红蛋白浓度和MCV显著相关（P <0.001）。HbF与年龄呈强负相关（r =-0 9，P < 0 001）。尽管HbS-HPFH患者的HbF水平高得多，但其HbF下降的年龄相关模式和相关性与镰状细胞贫血或HbS-β0地中海贫血患者相似。
Compound heterozygotes for sickle haemoglobin (HbS) and hereditary persistence of fetal haemoglobin (HPFH) have high fetal haemoglobin (HbF) levels but few, if any, sickle cell disease-related complications. We studied 30 cases of HbS-HPFH (types 1 and 2), confirmed by molecular analysis, and report the haematological features and change in HbF levels over time. These results were compared to those of patients with sickle cell anaemia or HbS-β0 thalassaemia, including a subgroup of patients carrying the XmnI polymorphism, known to be associated with elevated HbF. Among the HbS-HPFH patients, HbF level was 50–90% during infancy and declined steeply within the first few years of life, stabilizing between ages 3 and 5 years, at approximately 30%. Mean HbF of individuals age 5 or older was 31 ± 3%, average haemoglobin concentration was 130 ± 10 g/l and average mean corpuscular volume (MCV) was 75 ± 4 fl. Univariate and multivariate regression analyses significantly associated HbF with age, haemoglobin concentration, and MCV (P < 0⋅001). There was a strong inverse association between HbF and age (r = −0⋅9, P < 0⋅001). Despite having a much higher HbF level, patients with HbS-HPFH have a similar age-related pattern of HbF decline and associations as patients with sickle cell anaemia or HbS-β0 thalassaemia.
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DOI：
10.1111/j.1749-6632.1998.tb10460.x
发表时间：
1998-01-01
期刊：
COOLEYS ANEMIA
影响因子：
--
作者：
Forget, BG
通讯作者：
Forget, BG
影响因子：
12.8
作者：
STEINBERG, MH;HSU, H;RIEDER, RF
通讯作者：
RIEDER, RF
影响因子：
20.3
作者：
CONLEY, CL;CHARACHE, S;RICHARDSON, SN
通讯作者：
RICHARDSON, SN
DOI：
10.1111/j.1749-6632.1969.tb27774.x
发表时间：
1969-01-01
影响因子：
5.2
作者：
CHARACHE, S;CONLEY, CL
通讯作者：
CONLEY, CL
影响因子：
6.5
作者：
PADMOS, MA;ROBERTS, GT;SERJEANT, GR
通讯作者：
SERJEANT, GR