Kinetics of factor VIII:C inhibitors and treatment response in severe hemophilia A patients.

Severe hemophilia A (HA) patients develop inhibitory alloantibodies to factor VIII:C and therefore require bypass agents that are scarce, expensive and may provoke secondary effects. Twenty-three severe HA patients who were high-responders to FVIII inhibitors were studied. FVIII:C activity in plasma was measured by one-stage activated partial thromboplastin time method, and the quantification of FVIII:C inhibitors was carried out by the Nijmegen-Bethesda method.

Inactivity is a risk factor for low bone mineral density among haemophilic children.

Reduced bone mineral density (BMD) in childhood is a risk factor for osteoporosis in later life. This case-control study determined the prevalence of low BMD, calcium intake and physical activity in 62 haemophilic children and 62 sex-, race- and age-matched healthy boys as controls. Lumbar spine (L2-L4) BMD was determined by dual-energy X-ray absorptiometry; BMD was considered to be low when Z-score > or =2.

Frequency of intron 1 and 22 inversions of Factor VIII gene in Mexican patients with severe hemophilia A.

Hemophilia A (HA) is one of the most common inherited bleeding disorders caused by FVIII gene mutations. Inversion of intron 22 (inv22) originates 50% of cases of severe HA and is a major risk factor for inhibitor development. Inversion of intron 1 (inv1) has been reported to occur in 2-3% of severe HA patients.

Increased expression of AML1-a and acquired chromosomal abnormalities in childhood acute lymphoblastic leukemia.

A semi-quantitative expression analysis of both AML1-a and AML1-total was performed by RT-PCR in 19 children with acute lymphoblastic leukemia (ALL) at diagnosis. AML1-a expression was assessed in 16 bone marrow (BM) and 13 peripheral blood (PB) samples whereas AML1-total was assessed in 17 BM and 16 PB samples. These analyses were also carried out in 15 PB samples of healthy controls.