- 期刊
β型海洋性貧血－血紅素E症合併總膽管結石之一病例報告
A Case Report of β-Thalassemia-Hemoglobin E Disease with a Complication of Common Bile Duct Stone
摘要
海洋性貧血症是一種家族遺傳的爲溶血性貧血症，爲血紅素多胜鏈(Hb polypeptide)合成障礙而引起的血液症；血紅素E(HbE)係正常血紅素A(HbA)的一種變異，爲β多勝鏈的第二十六個氨基酸－麩氨基酸(glutamic acid)－轉換爲離氨基酸(lysine)，也是由遺傳而來。海洋性貧血，由於不同多胜鏈合成之受挫，可出現許多不相同的類型。本病例是一位13歲的男孩，其祖母爲泰國人，祖父爲中國人，病人的父親是中泰混血種，血紅素電泳分析爲異型結合血紅素E症(heterozygous HbE)，病人的母親爲中國，血紅素電泳分析爲輕型β型海洋性貧血(β-thalassemia minor)，因此經由雙重異合子(double heterozygous)，而形成所謂的β型海洋性貧血－血紅素E症。臨床上出現貧血與黃疸等症狀，膽結石是溶血性貧血常見的一種併發症，通常見於膽囊內，至於發生在總膽管內的並不多，故提出報告。
關鍵字
無資料並列摘要
Thalassemias are a group of hereditary hemolytic anemias due to defects in the rate of synthesis of globin polypeptide chains. Hemoglobin E is a variant form of hemoglobin A. The abnormality is glutamic acid at the 26th amino acid of the betachain substituted by lysine. The case presented is a 13 years old boy. His grandmother is a Thailander and grandfather is a Chinese. His father is a hydrid of Chinese-Thailand, and his Hb electrophoresis revealed HbAE. His mother is a Chinese and her Hb electrophoresis revealed β-thalassemia trait. Under double heterozygotic mechanism the patient presented with a β-thalassemiahemoglobin E disease. The cardinal clinical manifestations of this patient were anemia and jaundice. The stone found in the gall bladder is one of the common complications of chronic hemolytic anemias while that in the common bile duct is a rare occurrence.