Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant

We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T?>?A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A_1c testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband.     

Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong,Southeast Bangladesh

Abstract

Thalassemia is one of the most common autosomal recessive blood disorders in the world. It shows a variety of clinical expression, starting from asymptomatic to severe blood transfusion dependence. More than 500 alleles have been characterized in or around the β-globin region. Moreover, most geographical regions have their own characteristics, frequency and availability of these alleles, predominantly circulating within the communities present in that particular region. In this study, we explored the spectrum of β-thalassemia (β-thal) alleles present in Chittagong, Southeast Bangladesh. This study comprises β-thal and Hb E (HBB: c.79?G?>?A) patients from in and around the area of Chittagong. Not only exploring the complete β-globin mutation spectrum of the area, but we also tried to look at the origin of the mutated alleles. The β-thal mutations of Bangladesh show a relatively wide spectrum of alleles, which further demonstrates the heterogeneity of the disease in this country. Although our study showed that the majority of the mutations have their origin in neighboring countries such as India, countries of Southeast Asia, Pakistan, etc., some unusual alleles do not originate in neighboring countries and put a little more diversity in the overall spectrum of β-thal-specific alleles. Overall, this study demonstrates the mutation spectrum related to β-thal in Chittagong, Southeast Bangladesh.     

糖尿病诊断指标糖化血红蛋白的检测方法及临床意义

糖尿病目前已被国际社会列为人类健康头号杀手的非传染性疾病。血糖的检测在糖尿病的诊断、治疗及预防急性和慢性并发症中尤为重要。糖化血红蛋白（glycatedhemoglobin Alc，HbAlc）是反映既往2～3个月平均血糖水平的指标，用于评估长期血糖控制状况。目前HbAlc检测已经被推荐作为糖尿病诊断试验。现对HbAlC的检测方法及其临床意义作一综述。     

Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant

Hyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and β chains, or both chains of the hemoglobin (Hb) molecule. We describe two Hispanic adolescents with a new unstable Hb variant (HBB: c.348_349delinsG; p.His117IlefsX42), resulting from a frameshift mutation at codons 115/116 of the β-globin gene. Both patients also have a 3.7?kb deletion on one α gene, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.     

急性冠脉综合征患者糖化血红蛋白水平与预后的关系

目的 探讨急性冠脉综合征（ACS）患者糖化血红蛋白水平情况及其对ACS患者预后的影响.方法 将102例急性冠脉综合征患者根据糖化血红蛋白水平分为糖化血红蛋白正常组（A组）（HbAlc＜6.5％,n=31例）、糖化血红蛋白低危组（B组）（6.5％＜HbAlc＜7.5％,n=36例）、糖化血红蛋白高危组（C组）（HbAlc＞7.5％,n=35例）3组,分别观察各组入院时、3个月后12个月后的极低密度脂蛋白（VLDL）、C反应蛋白（CRP）、体重指数（BMI）、射血分数（EF）及相关心血管不良事件,如心绞痛、严重心律失常、再发心肌梗死、肺部感染等并发症发生情况.结果 ①A、B组及C组患者入院时VLDL、CRP、BMI及EF值差异无统计学意义（P＞0.05）,而3个月后及12个月后C组EF值较入院时未明显改善（P＞0.05）;②住院及随访12个月期间C组心血管不良事件心绞痛发生率、肺部感染发生率及死亡率较人院时明显增高（P＜0.05）.且HbAlc与心绞痛、严重心律失常、再发心肌梗死、肺部感染及死亡均呈正相关（r=0.412、0.271、0.319、0.251、0.134）.结论 糖化血红蛋白异常可不同程度地升高急性冠脉综合征患者心血管不良事件的发生率.