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Abstract：
Background: β-thalassemia is rare in sub-Saharan Africa and to our knowledge there has been no case of homozygous β-thalassemia major reported from this region. In a recent cohort study, we identified four β-thalassemia mutations among 83 heterozygous carriers in Kilifi, Kenya. One of the mutations identified was a rare β-globin gene initiation codon mutation (ATG➝ACG) (rs33941849). Here we present a patient with β-thalassemia major resulting from this mutation, only the second homozygous patient to have been reported. Methods: The female patient presented to Kilifi County Hospital aged two years with a one week left sided abdominal swelling. Clinical, hematological and genetic information were collected at admission and follow-up. Results: Admission bloods revealed marked anemia, with a hemoglobin (Hb) value of 6.6 g/dL and a low mean corpuscular volume of 64 fL. High performance liquid chromatography (HPLC) revealed the absence of HbA0 and elevated levels of HbF, suggesting a diagnosis of β-thalassemia major. Sequencing revealed that the child was homozygous for the rs33941849 initiation codon mutation. Conclusions: We hope that this study will create awareness regarding the presence of β-thalassemia as a potential public health problem in the East Africa region and will prompt the development of local guidelines regarding the diagnosis and management of this condition.
摘要：
背景：β-地中海贫血在撒哈拉以南非洲很少见，据我们所知，该地区尚无纯合β-地中海贫血的病例报道。在最近的一项队列研究中，我们在Kilifi的83个杂合携带者中鉴定出4个β-地中海贫血突变，肯尼亚。鉴定的突变之一是罕见的β-珠蛋白基因起始密码子突变(ATG^ACG)(rs33941849)。在这里，我们介绍了一个由这种突变导致的β-地中海贫血患者，只有第二位纯合患者被报告。方法：1例女性患者，2岁，左侧腹部肿胀1周。临床,在入院和随访时收集血液学和遗传信息。结果：入院时出现明显的贫血，血红蛋白（Hb）值为6.6g/dL，平均红细胞体积为64fL。高效液相色谱（HPLC）显示不存在HbA0和升高的HbF水平，提示β-地中海贫血的诊断。测序显示孩子是rs33941849起始密码子突变的纯合。结论：我们希望这项研究将使人们意识到β-地中海贫血的存在是东非地区潜在的公共卫生问题，并将促使制定有关这种疾病的诊断和管理的当地指南。
