[논문]혈우병 A의 발병에 관여하는 유전적 요인

심예지; 이건수

doi:10.5734/jgm.2010.7.1.1

혈우병 A의 발병에 관여하는 유전적 요인
Genetic Risk Factors of Hemophilia A 원문보기

Journal of genetic medicine, v.7 no.1, 2010년, pp.1 - 8

심예지 (경북대학교 의과대학 소아과학교실) , 이건수 (경북대학교 의과대학 소아과학교실)

Abstract ▼ AI-Helper

Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.

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그리고 phospholipid membrane, 활성화된 IX 인자, X 인자 기질이 막결합복합체를 형성하여(Xase complex) X 인자를 활성화시킨다^17-19). 그 결과 프로트롬빈(prothrombin)은 트롬빈으로 활성화되고, 섬유소원(fibrinogen)이 섬유소(fibrin)로 변화하여 혈액이 응고된다.

질의응답

핵심어	질문	논문에서 추출한 답변
	혈우병 A는 무엇인가?	혈우병 A는 VIII 인자 유전자의 이상으로 인해 VIII 인자의 활성이 감소하거나 혈장내 VIII 인자 수준이 감소하여 지혈에 장애가 생기는 성염색체 열성 유전질환이다. 약 2/3에서 가족력이 있으며 나머지 1/3에서 산발적으로 발생한다.
	혈우병 A의 진단은 어떻게 하는가?	혈우병 A는 정상보다 감소된 FVIII:C (VIII 인자의 procoagulant activity, 정상치 50-200%)를 측정함으로써 진단할 수 있다. FVIII:C가 1% (0.
	혈우병 A 증상의 경중은 FVIII:C에 따라 어떻게 구분되는가?	혈우병 A는 정상보다 감소된 FVIII:C (VIII 인자의 procoagulant activity, 정상치 50-200%)를 측정함으로써 진단할 수 있다. FVIII:C가 1% (0.01 IU/mL) 미만이라면 중증(severe), 1-5% (0.01-0.05 IU/mL)라면 중등증(moderate), 5% 초과 40% 미만(0.05-0.4 IU/mL)이라면 경증(mild)으로 정의한다2). 보통 중증 혈우병 A 환자의 경우에는 특별한 외상없이도 관절 및 근육의 자연 출혈이 자주 생길 수 있는 반면, 경증 환자의 경우에는 자연 출혈은 드물며 수술이나 치과 치료, 사고 후에 지혈이 되지 않는 증상이 주로 나타나 중증도에 따라 증상이 서로 다르다.

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