Detection of a rare mutation in an Iranian family: codons 37/38/39 (7 bp deletion).

We recently found a rare beta(0)-thalassemia (beta(0)-thal) mutation, namely codons 37/38/39 (-GACCCAG), in a consanguineous family from southeast Iran. The first cousin couple was heterozygous for the mutation. They had a healthy 4-year-old daughter and were referred to us for prenatal diagnosis at 6 weeks gestation in the second pregnancy. The fetus, based on results of sequencing of the beta-globing gene, was homozygous for the same mutation. Results of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) on detection of this 7 bp deletion, and also restriction fragment length polymorphism (RFLP) analysis confirmed the homozygosity of the fetus.

Hepatitis B and C virus infections in patients with hemophilia in Zahedan, southeast Iran.

OBJECTIVE: To determine the prevalence of hepatitis B virus (HBV) and hepatitis C virus (HCV) infections in patients with hemophilia in Zahedan, Iran. METHODS: From March 2003 to January 2006, we evaluated 81 hemophiliac patients in Zahedan Hemophilia Center, southeast Iran, for hepatitis C virus antibody (HCV-Ab) and hepatitis B surface antigen (HBsAg), and evaluated the prevalence of HBV/HCV co-infection. RESULTS: The seroprevalence of HCV was 29.6%, and the HBsAg was positive in 4.9%. Four cases had HCV and HBV co-infection. All of the infected patients were unknowingly treated with contaminated plasma products before the middle of 1996. CONCLUSION: All hemophiliacs, especially patients who have been treated with unheated clotting factor concentrates, should be evaluated for HCV and HBV infections.

Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations).

Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3. The aim of this study was to find different gene mutations responsible for SCN in Iranian patients. Twenty-seven patients with SCN referred to Immunology, Asthma and Allergy Research Institute during a five year priod 5 years (May 2007 and May 2012), were included in this study. Neutropenia related exons and flanking regions of ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3 were amplified by PCR and the sequences were analyzed. The results showed different mutations including 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations. None of the patients had GFI1 mutation and also one mutation was found in G-CSFR in a patient with ELANE mutation. Ten patients had unknown genetic diagnosis which was compatible with other studies. According to these results, most of the patients showed HAX1 mutations and this finding which significantly differed from other reports, might be related to differences in Iranian ethnicity and also in high rate of consanguineous marriages in Iran.

Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.

Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR. Also, recently G6PC3 as a rare gene in SCN has been reported. Patients with G6PC3 often have cardiac and/or urogenital malformations. Two patients with persistent severe neutropenia, recurrent infections and maturation arrest at promyelocyte-myelocyte stage in their bone marrow were assessed in this study. Both patients showed structural heart disease and one of them also showed urogenital anomaly. Sequence analyses of G6PC3 in 2 patients revealed two different homozygous mutations, one in exon 6 (Asn 313 fs), and the other in exon 3 (Ser 139 Met), the latter is a new mutation which has not been reported in previous studies. It can be concluded that G6PC3 is one of the responsible gene for SCN in Iranian patients. Based on the results, a new mutation in G6PC3 observed in one patient.