A homozygous female hemophilia A.

BACKGROUND: Hemophilia A (HA), being an X-linked recessive disorder, females are rarely affected, although they can be carriers. AIMS: To study the mutation in F8 gene in an extended family with a homozygous female HA. MATERIALS AND METHODS: All the seven affected members (six males and one female) were initially screened by Conformation Sensitive Gel Electrophoresis (CSGE) and direct DNA sequencing. RESULTS: A homozygous missense mutation c.1315G>A (p.Gly420Ser) was identified in exon 9 of F8 gene in homozygous state in the affected female born of 1° consanguinous marriage and in all the affected male members of the family. Her factor VIII levels was found to be 5.5%, vWF:Ag 120%. CONCLUSION: In India, as consanguineous marriages are very common in certain communities (up to 30%), the likelihood of encountering female hemophilia is higher, although this is the first case of HA out of 1600 hemophilia families registered in our Comprehensive Haemophilia Care Center. Genetic diagnosis in such cases is not necessary as all the male children will be affected and daughters obligatory carriers.

Assessment of coagulation state in untreated hyperthyroid and hypothyroid patients

Several studies have reported varoius hemotatic abnormalities in patients with thyroid diseases the traditional associations between hypercoagulable state and hyperthyroidism and between hypocoagulative state and hypothyroidism are critically revised on the basis of more recent litrature data the purpose of this study was to asessment of coagulation state in terms of bleeding and thrombosis in untreated hyperthyroid and hypothroid patients the study was carried out in 60 patients [30 hyperthyroidism 30 hypothyroidism and 30 healthy subjects as ontrol group] blood samples were collected in Al Mowasah Hospital and Nuclear meicine center during 2004 the partial thromboplastin time PTT prothrombin time PT and fibrinogen were determined with a coagulometer uing commercial kits of human factors VIII and IX activity were measured with coagulometer using commercial diamed. TSH and FT4 were measured by an autimated chemiluminescence system [Tosoho Corporation JAPAN] all meaurements performed immediately in Nuclear Medicine Center Statistics were caculated by using T-test and Pearsons correlation coeffieent for results processing Factors VIII and IX activity were singnificantly increased in untreated hyperthyroid patients [144.03% p<0.05 122.93%, p<0.05 respectively] and factors VIII and IX activity were singnificantly decreased in untreated hypothyroid patients [90.68%, p<0.05, p<0.05, respectively] compared with the control group [120.68%, 96.36%, respectively]. Levels of fibrinogen were elevated significantly in untreated hyperthyroid and hypothyroid patients [292 mg/dl, p<0.05, 272,93mg/dl p<0.05 respectively] compared with the control group [252.76 mg/dl]. The classic coagulation status PTT and PT were not greatly altered in untreated hyperthyroid and hypothyroid patiets we did not find significant correlation between both FT4 and TSH levels and haemostatic parameters that we measured Hypercoagulable state were found in untreated hyperthyroid patients and increase risk for thromboembolism Hypocoagulable and hypercoagulable state were found in untreated hypothyroid patients and increased risk for thromboembolism and bleeding tendency these alterations were subclinical and could not have been detected with the routin coagulation test such as the PTT and PT that came in concordance with what Erem C. et al. 2003 about blood coagulation and fibrinolytic activity in hypothyroidism and Erem C et al. 2002 about blood coagulation and fibrinollysis in patients with hyperthyroidism therefore we must control the coagulability state in untreated hyperthyroid and hypothyroid patients

Study of some factors affecting the coagulant activity of cryoprecipitate

The effect of type of anticoagulants and time elapsed between donation and cryoprecipitation on the coagulant activity of cryoprecipitate were studied. A total of 90 blood units from healthy volunteers with blood group [A] were used for the test. Factor VIII content was higher in case of citrate phosphate dextrose. CPD being 97.4 +/- 21 and only 47 +/- 11.9 in case of the anticoagulant Acid - citrate dextrose. CPD blood separated after one hour, 2 hours and 3 hours showed factor VIII consents of 95.6 +/- 16, 91.1 +/- 15 consecutively. Better yield of factor VIII can be obtained if plasma is prepared as soon as possible after donation and the use of CPD as anticoagulant