Italia Khushnooma, Dabke Pooja, Sawant Pratibha, Nadkarni Anita, Ghosh Kanjaksha, Colah Roshan B
a Hematogenetics Department , National Institute of Immunohaematology, Indian Council of Medical Research, King Edward Memorial Hospital Campus , Parel , Mumbai , India.
Hemoglobin. 2016 Sep;40(5):310-315. doi: 10.1080/03630269.2016.1201487. Epub 2016 Sep 14.
Hb E [β26(B8)Glu→Lys; HBB: c.79G > A]-β-thalassemia (β-thal) has an extremely variable clinical presentation. We report the clinical features of these patients from five Indian states together with their hematological and molecular characteristics. Seventy-eight Hb E-β-thal patients from different regions [West Bengal (30), Maharashtra (21), Uttar Pradesh (13), Bihar (11), Orissa (3)] were clinically evaluated along with hematological profiles and molecular characteristics (β-thal mutations, XmnI polymorphisms, α genotypes). Twenty-nine of the 78 patients had a mild clinical presentation (clinical score 2.2 ± 1.1), while 15 had moderate severity (clinical score 6.1 ± 1.2) with occasional transfusion needs, and 34 patients were severely affected (clinical score 8.2 ± 0.5) requiring regular blood transfusions. The age at clinical presentation in the severely affected patients was lower (6 months-10 years) as compared to those with milder symptoms (2 years-34 years). Thirty-four patients showed splenomegaly (spleen ≥3 cm below the costal margin) and five patients were splenectomized. The severe βIVS1-5 (G > C) (HBB: c.92 + 5G > C) was the most common β-thal mutation, while seven other mutations were also seen. The XmnI [+/+] and [-/-] polymorphisms were seen in 24.1 and 10.3% of mildly affected patients and 14.7 and 17.6% of severely affected patients respectively. A single α gene deletion (-α/αα) was found in 20.7% of mildly affected and 5.9% of severely affected patients, respectively. No specific differences in the clinical, hematological or molecular characteristics were observed in the Hb E-β-thal patients from various geographic regions or different ethnic groups.
血红蛋白E [β26(B8)谷氨酸→赖氨酸；HBB: c.79G > A]-β地中海贫血（β-地贫）临床表现极为多样。我们报告了来自印度五个邦的这些患者的临床特征及其血液学和分子特征。对来自不同地区[西孟加拉邦（30例）、马哈拉施特拉邦（21例）、北方邦（13例）、比哈尔邦（11例）、奥里萨邦（3例）]的78例血红蛋白E-β-地贫患者进行了临床评估，并检测了血液学指标和分子特征（β-地贫突变、XmnI多态性、α基因型）。78例患者中，29例临床表现轻微（临床评分2.2 ± 1.1），15例病情中度（临床评分6.1 ± 1.2），偶尔需要输血，34例患者病情严重（临床评分8.2 ± 0.5），需要定期输血。与症状较轻的患者（2岁至34岁）相比，病情严重的患者临床发病年龄较低（6个月至10岁）。34例患者出现脾肿大（脾脏位于肋缘以下≥3 cm），5例患者接受了脾切除术。严重的βIVS1-5（G > C）（HBB: c.92 + 5G > C）是最常见的β-地贫突变，同时也发现了其他7种突变。XmnI [+/+]和[-/-]多态性分别在24.1%的轻度受累患者和10.3%的重度受累患者以及14.7%的重度受累患者和17.6%的重度受累患者中出现。分别在20.7%的轻度受累患者和5.9%的重度受累患者中发现了单个α基因缺失（-α/αα）。在来自不同地理区域或不同种族的血红蛋白E-β-地贫患者中，未观察到临床、血液学或分子特征的特定差异。
