Hemoglobinopathies (original) (raw)
Saudi Medical Horizons Journal, 2022
Premarital screening is a program conducted for all married couples to detect genetic and infectious diseases [1]. Thalassemia, sickle cell disease (SCD), and sickle thalassemia are the most common hemoglobin hereditary disorders that have significant complications on the affected person. The incidence of hemoglobin abnormalities in Saudi Arabia has shown wide geographical variation [2-6]. Thalassemia is Inherited as a recessive trait. It is named according to the deficient chain production. The most common types are α-and β-thalassemia [7]. Alpha thalassemia causes different manifestations or no symptoms according to the numbers of the affected genes and chains. β-thalassemia is highly prevalent. It includes three forms: major (TM), intermedia (TI), and trait or carrier (TT).
Epidemiological profile of common haemoglobinopathies in Arab countries
Journal of Community Genetics, 2012
Haemoglobinopathies including the thalassemias and sickle cell disease are known to be prevalent inherited disorders in most Arab countries with varying prevalence rates and molecular characterisation. βthalassemia is encountered in polymorphic frequencies in almost all Arab countries with carrier rates of 1-11 % and a varying number of mutations. The most widespread mutation in Lebanon, Egypt, Syria, Jordan, Tunisia and Algeria is the IVS-I-110 (G>A). In the Eastern Arabian Peninsula, the Asian Indian mutations (IVS-I-5 (G>C), codons 8/9 (+G) and IVS-I (−25 bp del)) are more common. The α-thalassemias are encountered in the majority of Arab countries in frequencies ranging from 1 to 58 % with the highest frequencies reported from Gulf countries. The (−α 3.7) mutation is the most frequent followed by the non-deletional α2 polyadenylation signal mutation (AATAAA>AATAAG) and the α2 IVS1 5-bp deletion. The rates of sickle cell trait in Arab countries range from 0.3 to 30 %, with the Benin, the Arab-Indian and the Bantu haplotypes constituting the bulk of the haplotypes, leading to two major phenotypes; a mild one associated with the Arab-Indian and a severe one with the Benin and Bantu haplotypes. Public health approaches targeting prevention of haemoglobinopathies in Arab countries include newborn screening for sickle cell disease, and premarital screening for carriers of β-thalassemia and sickle cell disease. These services are still patchy and inadequate in many Arab countries recommending the upgrade of these services with strengthening of the education and training of health care providers and raising public awareness on the feasibility of prevention and care for haemoglobinopathies.
Journal of Personalized Medicine
This study aims to estimate the prevalence rates of β-thalassemia and Sickle cell disorders in the adult population screened (n = 275,819) as part of the Kuwaiti National Premarital Screening Program. All the individuals who applied for a marriage license during the years 2009 and 2020 were covered by the program. A network of four reception centers in the Ministry of Health facilities and one Premarital Diagnostic Laboratory (PDL) in Maternity Hospital were involved in performing all investigations for hemoglobinopathies. The total number of individuals identified with β-thal trait was 5861 (2.12%), while 22 individuals (0.008%) were diagnosed with β-thal disease. A total of 5003 subjects (1.81%) were carrying the Sickle cell trait, while 172 subjects (0.062%) had Sickle cell disease including Sickle cell anemia (SS). Results showed that the program succeeded indeed in preventing the marriage of 50.4% of risky couples by issuing unsafe marriage certificates. Yet more efforts are ne...
Forecasting Hemoglobinopathy Burden Through Neonatal Screening in Omani Neonates
Hemoglobin, 2010
To evaluate the incidence of hemoglobinopathies in Omani subjects and to forecast its future burden on health resources, we initiated a prospective neonatal screening program in two major cities of the Sultanate of Oman. Consecutive cord blood samples from a total of 7,837 neonates were analyzed for complete blood counts and for hemoglobin (Hb) profile by high performance liquid chromatography (HPLC). No case with Hb H (b4) was detected. We observed that the overall incidence of a-thalassemia (a-thal) was 48.5% [based on the presence of Hb Bart's (g4)] and the b-globin-related abnormalities accounted for 9.5% of the samples (4.8% sickle cell trait, 2.6% b-thal trait, 0.9% Hb E trait, 0.8% Hb D trait, 0.08% Hb C trait, 0.3% sickle cell disease and 0.08% homozygous b-thal). This is also the first large study to establish reference ranges of cord red blood cell (RBC) indices for Omani neonates.
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
Introduction: Haemoglobinopathies are inherited disorders of haemoglobin (Hb) and consist of Thalassemias and many other structurally variant haemoglobins. Out of these, beta-thalassemia major and clinically significant sickle cell disorders are of great public health importance in India. Lack of awareness regarding their prevalence and knowledge about diagnostic methods, has resulted in failure of community control of birth of these otherwise totally preventable genetic disorders in India. Aim: To study the spectrum of haemoglobinopathies in the study population and to assess the effectiveness of the antenatal screening program, in identifying the couples at-risk and providing prenatal intervention. Materials and Methods: This retrospective cohort study was performed at a community healthcare set-up in Mumbai. from August 2021 to October 2021 on medical records of 10,025 patients including women who were part of antenatal screening, patients investigated for anemia and who underwen...
Cohort profile: targeted antenatal screening for haemoglobinopathies in Basel
BMJ Open, 2020
PurposeThe pregnancy cohort was established to examine the prevalence and variety of haemoglobinopathies in a high-risk group of pregnant women.ParticipantsThe pregnancy cohort is located in the Department of Obstetrics and Antenatal Care, University Hospital of Basel. The pregnant women were recruited in the first trimester between June 2015 and May 2019. Family origin questionnaires were used to screen pregnant women for the risk of a haemoglobin variant. Based on the questionnaire, pregnant women were divided into two groups: women with a high risk and women with a low risk of a haemoglobin variant. In women with a high risk, red blood cell indices, iron status and chromatography were conducted.Findings to date1785 pregnant women were recruited. Out of the 1785 women, 929 were identified as a part of the high-risk group. Due to the missing data of 74 pregnant women with a high risk, the final analysis was conducted in the remaining 855 women. The prevalence of haemoglobinopathies...
2009
OBJECTIVE Premarital hemoglobinopathy screening is one of the important procedures of hemoglobinopathy control program. This is the first report about the prevalence of hemoglobinopathies in Kocaeli. METHODS Study covered screening from July 2005 to the end of the December 2008. Under the auspices of the Ministry of Health and Regional Health authorities blood samples of the couples were obtained during admission to the wedding office. Complete blood counts and hemoglobin variant analysis were performed with automatic counter and high pressure liquid chromotography technique. A genetic counseling was given to carriers of abnormal hemoglobins. RESULTS A total of 88888 people were screened. The frequency of β -thalassemia trait and sickle cell anemia trait were 0.89% and 0.05% respectively. The frequency of high risk couples was 0.01%. CONCLUSION The prevalence of β -thalassemia trait and sickle cell anemia trait was quite low as a reflection of the frequency of eastern and northern A...
A Different Look at Premarital Hemoglobinopathy Screening in Primary Care
Konuralp Tip Dergisi, 2021
Objective: Despite the high prevalence of hemoglobinopathies (HBP), the most common single-gene disorders in Turkey, data in some regions are lacking. We aimed to evaluate the effectiveness of the hemoglobinopathy premarital screening program (PMS) and to investigate the contribution of efficient use of complete blood count (CBC) parameters on cost-effectivity. Methods: HMP diagnosed 49171 subjects in 4 years and CBC of subjects with HMP in a year were evaluated retrospectively. Results: The total incidence rate of HBP was 3.41%, β-thalassemia trait (β-TT) was 1.98%, HMP incidence in the PMS group was 2.43%, β-TT was 1.08%. Moreover, HbF, HbD, HbC, HbS, HbE and HbJ were detected with the incidences of 0.49%, 0.14%, 0.05%, 0.04%, 0.007% and 0.009%, respectively. RDW/MCH ratio compared to other indices was the most successful for both sexes in diagnostic efficiency of HBP (AUC: male:0.922female:0.961) and β-TT (AUC: male;0.928-female:0.961). Conclusions: PMS was found to be an effective application program in HMP screening. RDW/MCH ratio was the most useful and easy parameter in detecting HBP and β-TT in PMS and in terms of reducing unnecessary test requests and cost-effectiveness in public health screenings.
2012
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 important methods of decreasing mortality and morbidity and mitigating rising healthcare costs. The diversity and heterogeneous distribution of hemoglobin disorders make it necessary to develop strategies at the country level. Methods: Overall, 499 healthy full term Iranian neonates were screened for hemoglobinopathies who were originated from Fars province in southern part of Iran. The screening was performed on cord blood samples collected on EDTA. Following sample collection, complete blood cell count cell indices, osmotic fragility test and hemoglobin electrophoresis were performed. Results: Total...
Prospective and retrospective primary prevention of Hemoglobinopathies in multiethnic societies
Clinical Biochemistry, 2009
Objectives: This review emphasizes the need for adapted prevention strategies in areas where severe hemoglobin disorders are endemic and in non-endemic countries where large immigrant groups are living. Design and methods: Screening versus carrier diagnostics upon medical versus ethnic indication, ethical issues associated with carrier screening, information to multiethnic carriers and practical aspects of laboratory diagnostics are discussed. Results and discussion: School screening is a valid option but needs follow up until partner choice. Premarital carrier diagnostics upon ethnic indication needs motivated GP's and might implicate (female) stigmatization in particular cultures. Early pregnancy is the best moment regarding the motivation, but needs rapid molecular analysis when a couple at risk seeks prevention. Neonatal screening is feasible when the organization is already present for other diseases and may offer retrospective as well as prospective primary prevention when all carriers are reported. Problems to be expected while implementing neonatal screening are summarized.