1.Comprehensive clinical and statistical analysis of hemophilia in Korea.
Kir Young KIM ; Chang Hyun YANG ; Myong Joon CHO ; Munho LEE
Journal of Korean Medical Science 1988;3(3):107-115
A Total of 498 cases of hemophilia which were reported by sixteen medical centers in Korea were reviewed and analyzed. Hemophilia A comprised 425 cases (85.3%) and the remaining 73 cases (14.7%) were hemophilia B. One case was female and all other cases were male. There were known hemophilia patients in the family in 43.0% of cases and the involved members were brothers, maternal cousins, maternal uncles, and maternal grandfathers in descending order of frequency. The major symptoms of the patients were hemorrhagic, such as easy bruising and hemarthrosis followed by prolonged bleeding after trauma and soft tissue hematoma. The incidence of hemarthrosis increased significantly with age. The pediatric age group below the age of 15 consisted of 67.1% of the cases. According to the age at diagnosis, half (54.2%) of the severe cases were diagnosed before the age of 1 year. APTT was prolonged over 40 seconds in all cases and 291 cases showed severe prolongation over 80 seconds. Of 498 cases 273 cases (54.8%) belonged to the severe form (factor VII or IX level, less then 1%), whereas 182 cases (36.5%) and 43 cases (8.7%) belonged to the moderate (factor VIII or IX, 2-5%) and mild form (factor VIII or IX, 6-25%), respectively, Chronic arthropathy was present in 236 cases (49.6%), and the incidence increased significantly with age. The management of chronic arthropathy most commonly employed was rehabilitation in 25.4% of cases, but in 50.8% no management was given at all. The involved joints in descending order of frequency were knees, elbows and ankles. The complications were intracranial hemorrhage, Gl bleeding and nerve palsy in 48, 24, and 13 cases, respectively.
Adolescent
;
Adult
;
Child
;
Child, Preschool
;
Female
;
HIV Antibodies/immunology
;
Hemophilia A/complications/*epidemiology/genetics
;
Hemophilia B/complications/*epidemiology/genetics
;
Humans
;
Infant
;
Joint Diseases/*etiology
;
Male
;
Questionnaires
2.Comprehensive clinical and statistical analysis of hemophilia in Korea.
Kir Young KIM ; Chang Hyun YANG ; Myong Joon CHO ; Munho LEE
Journal of Korean Medical Science 1988;3(3):107-115
A Total of 498 cases of hemophilia which were reported by sixteen medical centers in Korea were reviewed and analyzed. Hemophilia A comprised 425 cases (85.3%) and the remaining 73 cases (14.7%) were hemophilia B. One case was female and all other cases were male. There were known hemophilia patients in the family in 43.0% of cases and the involved members were brothers, maternal cousins, maternal uncles, and maternal grandfathers in descending order of frequency. The major symptoms of the patients were hemorrhagic, such as easy bruising and hemarthrosis followed by prolonged bleeding after trauma and soft tissue hematoma. The incidence of hemarthrosis increased significantly with age. The pediatric age group below the age of 15 consisted of 67.1% of the cases. According to the age at diagnosis, half (54.2%) of the severe cases were diagnosed before the age of 1 year. APTT was prolonged over 40 seconds in all cases and 291 cases showed severe prolongation over 80 seconds. Of 498 cases 273 cases (54.8%) belonged to the severe form (factor VII or IX level, less then 1%), whereas 182 cases (36.5%) and 43 cases (8.7%) belonged to the moderate (factor VIII or IX, 2-5%) and mild form (factor VIII or IX, 6-25%), respectively, Chronic arthropathy was present in 236 cases (49.6%), and the incidence increased significantly with age. The management of chronic arthropathy most commonly employed was rehabilitation in 25.4% of cases, but in 50.8% no management was given at all. The involved joints in descending order of frequency were knees, elbows and ankles. The complications were intracranial hemorrhage, Gl bleeding and nerve palsy in 48, 24, and 13 cases, respectively.
Adolescent
;
Adult
;
Child
;
Child, Preschool
;
Female
;
HIV Antibodies/immunology
;
Hemophilia A/complications/*epidemiology/genetics
;
Hemophilia B/complications/*epidemiology/genetics
;
Humans
;
Infant
;
Joint Diseases/*etiology
;
Male
;
Questionnaires
3.Haemophilia in 21st century Singapore.
Annals of the Academy of Medicine, Singapore 2009;38(4):378-372
4.The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier.
Kyung Soon SONG ; Chang Hoon LEE ; Chong Sin CHUNG ; Kook LEE ; Young Ho YANG ; Kir Young KIM
Yonsei Medical Journal 1993;34(3):239-242
We have analyzed two (BclI and XbaI) intragenic restriction fragment length polymorphisms (RFLPs) and St14 (DXS52) variable number of tandem repeats (VNTR) by rapid PCR method in 97 unrelated normal subjects. The incidences for positive Bc1I and XbaI polymorphic sites in the Koreans were 81% and 72%, respectively, which were higher than other ethnic groups but similar to that reported in the Chinese or Japanese, giving the heterozygosity rate of 0.32 and 0.40, respectively. The amplified allele size was 880 bp with no other polymorphism in the analysis of St14 (DXS52) VNTR. This finding should be taken into account in the planning of a prenatal diagnosis program for ethnic Koreans
Base Sequence
;
Gene Frequency
;
Hemophilia A/epidemiology/*genetics
;
*Heterozygote Detection/methods
;
Human
;
Korea/epidemiology
;
Molecular Sequence Data
;
Polymerase Chain Reaction
;
Polymorphism, Restriction Fragment Length
;
Prevalence