Gupta Vineeta, Aggarwal Priyanka
Pediatrics, Institute of Medical Sciences, Varanasi, IND.
Cureus. 2022 Oct 27;14(10):e30782. doi: 10.7759/cureus.30782. eCollection 2022 Oct.
Hemoglobin D (HbD) disease was identified in 31 samples from 15 families out of the 2560 samples (1.20%) analyzed for variant Hbs. There were five patients with HbSD disease, three with HbDβ disease, and the remaining 23 were HbD trait. Patients with HbSD disease had a variable clinical presentation with a pair of siblings being transfusion dependent although the age of first blood transfusion was different in the two patients. The one with high HbF started transfusions much later. None of them had symptoms related to sickling. Patients with HbDβ also had a variable presentation with only one of them being transfusion-dependent. All patients with HbSD and HbDβ disease were started on hydroxyurea. Persons with HbD trait were asymptomatic with half of them having normal Hb. The remaining half had mild microcytic hypochromic anemia. All the families with HbD disease were natives of this region and not migrants from other states. Although HbD disease has not been reported from this region in previous studies, clinicians need to be aware of this entity as it can give rise to symptomatic disease in some cases if associated with beta-thalassemia or sickle cell trait.
在对2560份样本进行异常血红蛋白分析时，从15个家庭的31份样本中鉴定出了血红蛋白D（HbD）病（占1.20%）。有5例HbSD病患者，3例HbDβ病患者，其余23例为HbD性状。HbSD病患者临床表现各异，一对同胞依赖输血，不过这两名患者首次输血的年龄不同。HbF水平高的那名患者输血开始得要晚得多。他们均无镰状化相关症状。HbDβ病患者的表现也各不相同，其中只有1例依赖输血。所有HbSD和HbDβ病患者均开始使用羟基脲治疗。HbD性状者无症状，其中一半血红蛋白正常。其余一半有轻度小细胞低色素性贫血。所有患有HbD病的家庭均为本地区居民，而非来自其他州的移民。尽管之前的研究未报道过该地区有HbD病，但临床医生需要了解这一疾病，因为如果与β地中海贫血或镰状细胞性状相关，在某些情况下它可能引发有症状的疾病。
