Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. Several studies have focused on the differences between frequency of the mutations and their phenotypical manifestations. The aim of this study was to evaluate whether or not this phenotypical variation is associated with the existence of particular mutations. Twelve MEFV (Mediterranean fever) gene mutations were investigated in 119 patients suffering from FMF. Heterozygote M694V (21/119), heterozygote E148Q (21/119), homozygote M694V (17/119) and heterozygote V726A (12/119) mutations were the most common mutations. Patients were grouped according to the presence of the M694V mutation: group I was M694V/M694V, group II was M694V/others, and group III was other/other. Mean severity scores for the groups were 13.94 +/- 4.10, 10.79 +/- 3.01 and 8.31 +/- 2.26, respectively. There were statistically significant differences between the mean severity scores of groups I and II (p = 0.029), groups I and III (p < 0.0001), and groups II and III (p < 0.0001). Diagnosis of amyloidosis was established in four (23%) patients of group I, and three (8%) patients of group II, but in none of the patients in group III. There was also a statistically significant difference between groups I and III (p = 0.046), but not between groups II and III (p = 0.083) and groups I and II (p = 0.317) in terms of amyloidosis development. In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers. Many ethnic groups live in Anatolia and more ethnic origin-based studies are needed to determine the real effect of these mutations on disease severity and amyloidosis.

Nutritional megaloblastic anemia in young Turkish children is associated with vitamin B-12 deficiency and psychomotor retardation.

We aimed to investigate the presence of psychomotor retardation, physical and laboratory examination in infants with megaloblastic anemia. Inclusion criteria for the study were; age 9 to 36 months, refusal of food except for breast and cow milk, loss of appetite, developmental delay, significant pallor, and hypersegmentation neutrophils in the peripheral blood smear. A total of 33 children fulfilling the inclusion criteria were enrolled among 3368 patients attending Pediatric Outpatient Clinics of sirnak-Cizre State Hospital between January 25, 2004 and May 5, 2004. Mean age was 16.4 months. Thirty-two patients had Vitamin B12 deficiency, 1 patient had folate deficiency, and 10 patients had combined vitamin B12 and folate deficiency. Statistically, a positive significant relationship was detected between serum vitamin B12 levels and mean corpuscular volume (P = 0.001, r = 0.56), and between vitamin B12 levels and hemoglobin (P = 0.004, r = 0.49). We believe that preventative measures such as fortification of flour with vitamin B12, nutritional support with vitamin B12 for the mother during pregnancy and nursing, provision of adequate primary preventive health services, and starting complementary food after 6 months of age are important determinants for preventing megaloblastic anemia.