Missed Diagnosis of β-Thalassemia Trait in Premarital Screening Due to Accompanying HbA2-Yialousa (HBD: c.82G>T).

The diagnosis of β-thalassemia (β-thal) trait is usually based on an elevated HbA2 fraction (3.5% to 8%). Co-inheritance of a δ-globin variant along with β-globin gene defects can interfere with the diagnosis of β-thal trait by causing normal HbA2 levels.

Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.

Purpose: Common polymorphic variants upstream of Zinc finger protein gene 469 (ZNF469) have been associated with central corneal thickness. Rare ZNF469 variants have been shown in keratoconus patients. The aim of the current study was to investigate the frequency of ZNF 469 gene variants in rapidly progressive advance keratoconus patients who underwent corneal transplant surgery by the age of 30, compared to their frequency in the normal Turkish population.

Genetic and environmental factors in human osteoporosis.

Osteoporosis is a common disorder, with prolongation of the average life span it has become a major public health problem. On the formation of osteoporosis genetic factors and environmental influences could play a role then it is considered as multi-factorial. Because a variety of functions to affect susceptibility to the formation of osteoporosis VDR-F, VDR-B, COL1A1, ESR1X, ESR1P and CTR are thought to be candidate genes.

The use of a standardized pre-participation physical examination form in Turkish adolescent athletes.

Objective: The pre-participation physical examination (PPE) has become the standard of care for athletes of all ages. The PPE is generally intended to identify medical conditions that may affect safe and effective participation in organized sports. The aim of this study is to validate and to implement a standardized questionnaire in Turkish language, which might aid Turkish physicians during the PPE.