ABSTRACT
BACKGROUND: A program for the prevention of major hemoglobinopathies was initiated in 2008 in the Kurdistan region of Iraq. This study reports on the achievements and challenges of the program. METHODS: A total of 102,554 individuals (51,277 couples) visiting a premarital center between 2008 and 2012 were screened for carrier status of hemoglobinopathies, and at-risk couples were counseled. RESULTS: A total of 223 (4.3/1,000) couples were identified and counseled as high-risk couples. Available data on 198 high-risk couples indicated that 90.4% proceeded with their marriage plans, and 15% of these married couples decided to have prenatal diagnosis (PND) in subsequent pregnancies with the identification of 8 affected fetuses; all were terminated as chosen by the parents. Thirty affected births were recorded among the high-risk couples. The premarital program managed to reduce the affected birth rate of major hemoglobinopathies by 21.1%. Of the 136 affected babies born during the study period, 77.9% were born to couples married prior to the start of the program, while 22.1% were born to couples identified as having a high risk. The main reason for not taking the option of PND was unaffordable costs. CONCLUSIONS: Financial support would have increased opting for PND by high-risk couples. Further reduction in affected birth rates could be achieved by including parallel antenatal screening programs to cover those married before the initiation of the premarital program and improving the public health education and counseling programs.
Subject(s)
Genetic Counseling , Hemoglobinopathies , Preconception Care , Prenatal Diagnosis , Adult , Family Health/economics , Family Health/education , Female , Genetic Counseling/methods , Genetic Counseling/organization & administration , Health Education , Hemoglobinopathies/classification , Hemoglobinopathies/diagnosis , Hemoglobinopathies/epidemiology , Hemoglobinopathies/prevention & control , Humans , Infant, Newborn , Iraq/epidemiology , Male , Mass Screening/methods , Preconception Care/methods , Preconception Care/organization & administration , Pregnancy , Pregnancy Outcome/epidemiology , Prenatal Diagnosis/economics , Prenatal Diagnosis/methods , Program EvaluationABSTRACT
To investigate the molecular basis of ß -thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their ß-thalassemia mutations characterized, as well as the number of α-globin genes and Xmn I (G)γ-158 (C>T) polymorphism studied. Out of 14 ß-thalassemia mutations identified, the four most common were IVS-I-6 (T>C) [33.3%], IVS-II-I (G>A) [21.1%], codon 82/83(-G)[10.1%], and codon 8 (-AA) [8.1%]. The most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild ß-thalassemia alleles and the Xmn I polymorphism, while concomitant α-thalassemia had a limited role. Several complications were documented including: pulmonary hypertension in 20.4%, diabetes mellitus in 1.4%, hypothyroidism in 2.9%, and heart failure in 2.7%, while no documented cases of venous thrombosis were found. Compared to their counterparts in several Mediterranean countries, it appears that our patients were much less frequently transfused and had a lower proportion of patients who were splenectomized, on iron chelation, or hydroxycarbamide therapy. Such practices require further scrutiny to ensure that a better level of care is provided and that growth retardation, skeletal changes, and other complications are prevented or reduced.
