[Genetic analysis of FMF in a small village with high frequency in North West of Iran]

Familial Mediterranean Fever [FMF] is an inherited inflammatory disorder which caused by mutations in the MEFV gene. The disease is common among Turks, Armenians and Arabs, whereas no data from the neighbor countries is available. We studied an 8 years old boy with periodic fever and recurrent abdominal pain. Genotype analysis was performed by reverse-hybridization for 12 most frequent variants. Result indicated the patient and several individuals in the family were compound heterozygote or homozygote for the mutations. Genetic analysis for the other individuals without any clinical features in the village showed an allelic frequently of 22%, which is the highest rate reported to date

[Hb Dhonburi [Neapolis] [beta126[H4] Val-Gly] identified in a family from northern Iran]

Thalassemias are the most common hereditary disease in Iran, resulting from defects in synthesis of one or more hemoglobin [Hb] subunits. The majority of patients suffer from beta-thalassemia [thal], but cases with microcytic hypochromic anemia and normal electrophoretic patterns are suspected to have alpha or silent beta-thalassemia. A family from the northern part of Iran, an area where thalassemias, are highly prevalent was referred to us for prenatal diagnosis. The hematological data of the father indicated a pattern of beta-thal minor. Reverse hybridization analysis for the most common beta-globin mutations identified IVS-II-1 [G-A] in the heterozygous state. The maternal laboratory data indicated a case more compatible with alpha-thal. Iron deficient anemia was ruled out, and common alpha-thal point mutations and deletions were investigated. As no mutation was detected, globin chain synthesis was performed and showed an alpha/beta chain ratio of 2.1, that was in the range of beta-thal minor. DNA sequencing of the entire beta-globin gene identified a heterozygous GTG-GGG [Val-Gly] mutation at codon 126, also known as Hb Dhonburi [Neapolis]. Prenatal diagnosis of the fetal DNA showed the absence of the IVS-II-1 and codon 126 anomalies. This result demonstrates the importance of screening of individuals with mild microcytic hypochromic anemia for both alpha- and silent beta-thal mutations