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例1,黄××,男,3岁5个月,广西籍。患儿自半岁起,反复面色发黄,尿黄如茶。血色素最低2～4g,红细胞70～140万,拟诊“贫血”(原因不明),曾先后输血40余次,输血后症状能短期缓解。患儿系第五胎足月顺产,发育迟缓,至今不能自己行走。祖父母及父母无类似病史,大姐1.5岁死于“喉疾”,二、三姐健康,四哥因贫血、黄疸,1.5岁死亡(经广西医学院书信会诊,考虑“先天性溶贫”可能性大)。入院体检;皮肤、眼结膜苍白,浅表淋巴结不肿大,未见塔形颅、鞍状鼻,心尖可闻3/VI收缩期杂音,肝肋下4cm,脾肋下3cm,质中等。化验:Hb1.8～4.8g,RBC114～198万,血小板14.8万,WBC12100,晚幼粒4％,杆状7％,分叶45％,淋巴40％,有核红细胞3％,单核1％。网织红细胞2.5％,红细胞
Example 1, yellow × ×, male, 3 years old and 5 months, Guangxi nationality. Children from the age of six months, repeatedly looking yellow, yellow urine such as tea. Hemoglobin minimum 2 ~ 4g, red blood cells 70 to 1.4 million, to be diagnosed with “anemia” (for unknown reasons), has blood transfusion more than 40 times, the symptoms can be short-term relief after blood transfusion. Children born in the fifth full-term fetus, developmental delay, so far can not walk. Grandparents died of “laryngeal” at 1.5 years old, health of second and third elders, brother died of anemia and jaundice at 1.5 years old (due to the consultation of Guangxi Medical College, consider the possibility of “congenital solution to poverty” Big). Admission examination; skin, conjunctiva pale, superficial lymph nodes are not enlarged, no tower cranial, saddle nose, apex can be heard 3 / VI systolic murmur, liver ribs 4cm, 3cm spleen ribs, medium quality. Laboratory: Hb1.8 ~ 4.8g, RBC114 ~ 1.98 million, platelet 148000, WBC12100, late juvenile 4%, rod 7%, leaf 45%, lymphatic 40%, erythroblast 3%, mononuclear 1% . Reticulocyte 2.5%, red blood cells