General features of HA patients.
Descriptive data are shown in Table 1 (suppl). The most frequent genetic
mutation was the reversal of intron 22, which was detected in 9 patients
(56.25%). The inversion of intron 1 was detected in one patient,
mutations of type missense in two patients (one with involvement of exon
23 of the F8 gene (p.Pro2153Leu), affectation of exon 7 (p.Phe276Leu) in
another one and finally a nonsense mutation in exon 18 (p.Arg1966X) in
another patient. In 3 patients (18.75%), the study had not been carried
out yet. Five patients were positive for hepatitis C virus (HCV) and 3
of these were also positive for HIV. The weekly consumption of FVIII was
of 6.78 + 3.26 IU, with 9 patients receiving it 3 times a week
and 6, every two days. Only one patient received it twice a week.
Regarding inhibitors, 11 patients had never presented them and 5
patients have had inhibitors at some point in their lives. No inhibitor
was detected in the last year prior to the study in any patient.
Although 10 patients only had HA, 3 patients with HIV were in treatment
with triple antiretroviral therapy, with good analytical controls and
different stages of the disease, one patient had autism and one patient,
epilepsy (both in treatment with risperidone, aripiprazole and/or sodium
valproate) and another one had asthma with occasional treatment with
antihistamines. The HCV positive patients had all been treated for years
with interferon; at the moment of the study, none of them was under
treatment for different reasons: undetectable copies of viral RNA (in
two patients), poor tolerance to the drug and no liver fibrosis greater
than 2. Two patients were smokers. A single 9-year-old patient with
mental retardation was a carrier of Porth-A-Cath. As negative controls,
we selected 15 healthy subjects of a range age between 26 and 48 years
with a median of 36 years. Three of them were smokers.