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.

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.

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.

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.