Introduction: Newborn screening is a systematic application of tests for early detection, diagnosis, and treatment of certain genetic or metabolic disorders that may lead to mortality and morbidity if untreated. As stated by WHO, each year over 330,000 babies are born worldwide with a severe form of hemoglobinopathy. Newborn screening for hemoglobinopathies could become one of the most importan...

In the sickle cell syndromes, Hb A2 measurements aid in the differential diagnosis of sickle cell anemia from sickle-beta-thalassemia. The purpose of this study is to assess the Hb A2 levels in samples containing sickle hemoglobin (Hb S) by the use of an automated high performance liquid chromatography system (HPLC-Variant beta-thalassemia Short Program). The blood samples analyzed were from in...

background: the aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, shafa hospital, affiliated to ahvaz jondidishapur university of medical sciences (ajuoms), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (pnd)....

Background and Objectives. We report on two families in which the β0-thalassemia mutation IVS2+1G→A occurs either in the homozygous or compound heterozygous condition with other β-thalassemia determinants. In the first family the proband, homozygous for the IVS2+1 determinant, is asymptomatic and was detected by chance during a screening program for β-thalassemia. In the second family, the prob...

BACKGROUND Transfusions are the primary therapy for thalassemia but have significant cumulative risks. In 2004, the Centers for Disease Control and Prevention (CDC) established a national blood safety monitoring program for thalassemia. This report summarizes the population and their previous nonimmune and immune transfusion complications. STUDY DESIGN AND METHODS The CDC Thalassemia Blood Sa...

In Southeast Asia alpha-thalassemia, beta-thalassemia, hemoglobin (Hb) E and Hb Constant Spring are prevalent. The gene frequencies of alpha-thalassemia reach 30-40% in Northern Thailand and Laos. beta-Thalassemia gene frequencies vary between 1 and 9%. Hb E is the hallmark of Southeast Asia attaining a frequency of 50-60% at the junction of Thailand, Laos, and Cambodia. Hb Constant Spring gene...

OBJECTIVE Changing patterns of immigration to North America, along with improved treatment, have altered the clinical spectrum of thalassemia, one of the world's most common genetic diseases. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Characterization of the new spectrum of this ancient disease, now pre...

Mục tiêu nghiên cứu: Mô tả đặc điểm huyết học và tỷ lệ lưu hành gen bệnh tan máu bẩm sinh (thalassemia) của người dân từ 15 – 20 tuổi tại tỉnh Cao Bằng. Phương pháp cắt ngang có phân tích trên đối tượng là 355 Bằng tháng 9/2021 đến 1/2023. Kết quả Tỷ thiếu chung ở 15-20 19,1%; mức độ nặng 1,4%, vừa 7,6%, nhẹ 10,1%; hồng cầu nhỏ nhược sắc 24,8%; sắt đơn thuần 1,4%; 4,2%, bất thường tố 6,2% theo ...

Thalassemia is a hematological disorder caused by gene mutation that leads to defective synthesis of hemoglobin complex. One the complications thalassemia hypocalcemia which presented with paresthesia, muscle spasm, low-serum calcium, and intracranial calcification. Hypocalcemia can affect thalassemic patients via various mechanisms. Blood transfusion-related transfusion-independent iron overlo...