Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing.

Different kinds of mutations, mostly point mutations, in the coagulation factor IX (FIX) gene F9 result in a recessive X-linked bleeding disorder known as haemophilia B. In this study, molecular analysis of 76 unrelated Iranian haemophilia B patients was performed by PCR, single strand conformational polymorphism (SSCP) on important functional regions of the F9 gene followed by sequencing on samples with different migration pattern. Using this approach we found mutation in 52 out of 76 patients. Our data showed that the pathologic mechanisms are heterogeneous as recorded for patients in haemophilia B mutation database and seven of the mutations are previously undescribed.

Combination of cyclophosphamide, etoposide, carboplatin and dexamethasone as a salvage regimen for refractory multiple myeloma patients: a comparison with a historical control group.

The aim of this study was to design a regimen for refractory multiple myeloma with minimum complications to achieve a reasonable response. Fifteen patients with active multiple myeloma after at least two lines of conventional treatment underwent therapy with our regimen for two cycles. Disease activity was evaluated after the last cycle. Another 15 patients with refractory multiple myelomas that had previously received only supportive therapy and pain management formed a historical control group. The follow-up period was 12 months for each study group. Of the patients receiving therapy, 6.7% achieved a complete response and 26.7% a partial response; overall response rate was 33.3%. Stable disease was achieved in 46.7% and 20% of the patients had progressive disease. There was no treatment related mortality. The hazard rate of death was 0.73 lower in the intervention group than in the historical control group. In the historical control group, 60% had progressive disease and 40% had stable disease; approximately 40% of patients died during the 12-month follow up. Also, the severity of pain was significantly reduced in the intervention group (P=0.033). Our chemotherapy regimen showed a reasonable response in end stage patients with multiple myeloma in terms of disease control, reducing bone pain and improving survival, in addition to reducing toxicity.

A study of Bernard-Soulier syndrome in Tehran, Iran.

BACKGROUND: Bernard-Soulier Syndrome (BSS) is a hemorrhagic disorder with an autosomal recessive pattern of inheritance. We describe the demographic and clinical characteristics of Iranian patients with BSS followed in a major teaching and tertiary care hospital in Tehran, Iran. METHODS: We performed a retrospective medical record review of 97 patients with BSS who received care at the Imam Khomeini Hospital between 1969 and 2001. We collected data on the family history, clinical presentation, bleeding episodes, and lab profiles of these patients. RESULTS: Among all patients, 78 (81%) had a family history of consanguinity. The most common presenting symptom was epistaxis, seen in 62 (63.9%) patients. Peripheral blood smears demonstrated giant platelets on 67 (68.7%) of patients. Complete blood count demonstrated decreased platelets in 85 (87.4%) of patients ranging from 20,000/µL to 130,000/µL. Anemia was seen in 62 (64%) and 91 (93.8%) had prolonged bleeding time. The majority of patients (60%) had mild bleeding episodes, but 39 (40%) had at least one episode of severe bleeding in their past history. CONCLUSION: Our data are consistent with other reports regarding clinical presentation of BSS, but consanguinity seems to be more common.