The prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations were investigated among 87 Saudi sickle cell disease (SCD) patients (38 males and 49 females) and 105 healthy controls (65 males and 40 females). The prevalences of factor V Leiden (P = 0.174) and PRT G20210A (P = 0.397) were not different between patients and controls, thereby giving no support to an association of either single-point mutation with SCD. However, an increased prevalence of the MTHFR 677 T/T genotype was seen among patients (8/87) compared to controls (4/105), but this was not statistically significant (P = 0.217; OR = 2.56). This suggested a low impact of inherited hypercoagulability risk factors in the pathogenesis of SCD and/or its complications. Am.

Haemophilia A is an X-linked recessive bleeding disorder caused by mutations in the factor VIII (FVIII) gene. The mutation spectrum is known in various populations, but not in Arabs. We selected 20 unrelated Arab patients with severe haemophilia A. Those patients underwent detailed clinical examination and their plasma FVIII:C activity was also measured. We extracted DNA from their blood samples and we looked for intron 22 inversion, deletions, insertions and base substitutions in the FVIII gene. Intron 22 inversion was common (detected in 11 patients, 55%), eight base substitutions (six of which are novel) were detected in nine patients (45%) and none had an insertion or deletion. Of eight base substitutions detected, six were potentially pathologic and this was correlated well with the severe clinical phenotype observed. Larger studies with more Arab patients from various Arab countries are needed in order to establish a solid conclusion about the prevalence of various mutations in this unique ethnic group. For the families included in this study, the results obtained can be helpful for carrier testing, prenatal diagnosis or pre-implantation techniques for detection of unaffected embryos.

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Despite the fact that neonatal alloimmune thrombocytopenia (NAIT) is a relatively rare disease (1/1500-1/5000 live births), 1 its importance stems from its potential to cause serious complications. NAIT accounts for 20% of cases of neonatal thrombocytopenia and is most commonly attributed to platelet-specific antigens. Diagnosis is usually confirmed by demonstrating that antiplatelet antibodies in the mother's serum are reactive with her baby's or husband's platelets. This test is, however, not always reliable.2 Alternatively, platelets from the family could be serotyped, using specific antisera, but this is usually limited to reference laboratories. Recently, it has become possible to genotype platelet alloantigens, using various DNA-based techniques.3,4 This does not only simplify diagnosis but also allows early recognition and therapeutic intervention, such as intrauterine platelet transfusion and delivery by cesarean section. These therapeutic measures may prevent mortality or serious sequelae, such as permanent CNS damage. In this case report, we discuss the utilization of polymerase chain reaction-sequence specific primer (PCR-SSP) technology in a Saudi newborn with NAIT. Case ReportA full-term, low birth weight (2.3 kg) baby boy was normally delivered in the Maternity and Children's Hospital, Dammam in 1997. Apgar score was normal and there were no dismorphic features, petechiae or purpuric lesions. Routine biochemical investigations revealed low serum glucose (34 mg/dL). Hematological tests done on the first day showed normal Hb 21.1 g/dL, normal WBC (8.5x109 /L) and low platelet count (100x10 9 /L). The platelet count thereafter dropped to 66x10 9 /L on the 6th day of admission and became normal (163x10 9 /L) two weeks after delivery. Differential WBC count showed a predominance of lymphocytes (54%), with 42% neutrophils, 2% monocytes and 2% eosinophils. Apart from a few nucleated RBC and physiological macrocytosis, RBC morphology was normal. A few platelets looked morphologically large. Coagulation studies excluded disseminated intravascular coagulopathy (DIC). Serological evaluation was negative for toxoplasma, but positive (IgG) for both rubella and cytomegalovirus (CMV), indicating maternally acquired antibodies. Blood culture did not grow any bacteria. The mother had three other healthy children. She aborted twice during her second and fourth pregnancies in the first and second trimesters for unknown etiology. She had a history of hypertension but was not on any medication. There was no history of a similarly affected sibling with thrombocytopenia or bleeding manifestations. The mother herself did not have any history of bleeding. Her platelet count was 216x10 9 /L on the day of the delivery. Detection of Anti-Platelet and Anti-HLA AntibodiesSerum was collected from the baby and the mother, and 10 mL EDTA blood from the father provided platelets for the antibody test. Platelet indirect immunofluorescent test (PIFT) was performed by the recommended technique.5 The father's platelets were incubated i...