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血红蛋白H(简称Hb-H)是一种遗传性溶血性疾病,属α地中海贫血,HbH、Bart’s及Constant Spring(简称C.S),均为血红蛋白Gc肽链异常的疾病,三者出现在一个病人身上,国内文献报导为数不多,我们最近检出一例,经检查证实为Hb H复合Bart’s及HbC-S,并作了家系调查,现报导于下。病例:男,7岁,广州郊区人。父代诉:患儿自两岁开始面色较苍白,易疲倦,不爱动,最近患感冒曾服用中药感冒茶,未打过退热针,未服过西药,皮肤越来越苍黄,尿色变深而来门诊。患儿为第四胎,足月顺产,其母无死胎史。体查:发育生长迟缓,精神萎靡,肤色苍白,巩膜轻度黄染,皮下无出血点,表浅淋巴结不大,头颅略呈方形,鼻梁凹陷,眉
Hemoglobin H (referred to as Hb-H) is a hereditary hemolytic disease, is a thalassemia, HbH, Bart’s and Constant Spring (referred to as CS), are hemoglobin Gc peptide chain abnormalities, the three appeared in a patient , The domestic literatures reported as one of the few, we recently detected a case, after examination confirmed that Hb H complex Bart’s and HbC-S, and made a pedigree investigation, are reported below. Case: Male, 7 years old, Guangzhou suburbs. Paternity sufferer: children from the age of two looking pale, easy to wear, do not love to move, the recent flu who had taken traditional Chinese medicine cold tea, did not hit the heat needle, did not take Western medicine, the skin more yellow, urine color Become deeper clinic. Children with the fourth child, full-term delivery, the mother had no history of fetal death. Physical examination: growth retardation, apathetic, pale complexion, scleral mild yellow dye, no bleeding under the skin, superficial lymph nodes is not large, slightly squared skull, nose concave, eyebrow