Daar Shahina, Gravell David, Hussein Hussein M, Pathare Anil V, Wali Yasser, Krishnamoorthy Rajagopal
Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman.
Eur J Haematol. 2008 Jan;80(1):67-70. doi: 10.1111/j.1600-0609.2007.00989.x.
Hb Dhofar is a variant haemoglobin (beta(29 (GGC-GGT) gly-gly), beta(58 (CCT-CGT) pro-arg)) associated with a thalassaemic phenotype and unique to the Sultanate of Oman. We report clinical and haematological data on 54 subjects with Hb Dhofar (37 heterozygotes, 14 homozygotes and three compound heterozygotes with a different beta-thalassaemia mutation). In heterozygotes, the level of Hb Dhofar ranged from 8.8% to 21.5%. All heterozygotes had Hb A2 > 3.5%, consistent with beta-thalassaemia trait. Hb Dhofar in homozygotes and compound heterozygotes ranged from 26% to 59.7%, with a peripheral film consistent with homozygous beta-thalassaemia. Age at presentation in homozygotes ranged between 6 months and 8 yr, with a majority presenting before 5 yr of age. All had splenomegaly and six (43%) had undergone splenectomy. All had some degree of frontal bossing and in particular, two patients with infrequent transfusions had marked thalassaemic facies and stunting of growth. Hb Dhofar can be mistaken for Hb D as the electrophoretic mobility is similar, but differs from it by a variable and reduced quantity of variant Hb in both heterozygotes and homozygotes. Clinical and haematological data suggest that this mutation behaves like a moderately severe beta(+) thalassaemia allele resulting in a thalassaemia intermedia phenotype.
Hb佐法尔是一种变异血红蛋白（β(29 (GGC - GGT) 甘氨酸 - 甘氨酸)，β(58 (CCT - CGT) 脯氨酸 - 精氨酸)），与地中海贫血表型相关，且仅在阿曼苏丹国出现。我们报告了54例Hb佐法尔患者（37例杂合子、14例纯合子和3例携带不同β地中海贫血突变的复合杂合子）的临床和血液学数据。在杂合子中，Hb佐法尔水平在8.8%至21.5%之间。所有杂合子的Hb A2>3.5%，符合β地中海贫血特征。纯合子和复合杂合子中的Hb佐法尔在26%至59.7%之间，外周血涂片与纯合β地中海贫血一致。纯合子就诊时的年龄在6个月至8岁之间，大多数在5岁之前就诊。所有人都有脾肿大，6人（43%）接受了脾切除术。所有人都有一定程度的额部隆起，特别是两名输血不频繁的患者有明显的地中海贫血面容和生长发育迟缓。Hb佐法尔由于电泳迁移率相似可能会被误诊为Hb D，但在杂合子和纯合子中，其变异Hb的量可变且减少，与Hb D不同。临床和血液学数据表明，这种突变表现为中度严重的β(+)地中海贫血等位基因，导致中间型地中海贫血表型。
