Hemoglobinopathies (original) (raw)
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Role of premarital screening program in detection of hemoglobinopathies at Al Baha, Saudi Arabia
International Journal of Medicine in Developing Countries, 2023
Background: Hemoglobinopathies are prevalent in Saudi Arabia. The use of high-performance liquid chromatography (HPLC) for screening of these disorders has recently been undertaken. This study was conducted to estimate the prevalence of hemoglobinopathies and evaluate the role of premarital screening centers among residents of Al Baha province, Saudi Arabia. Methods: This retrospective cohort study utilized the laboratory reports of couples attending the premarital screening centers for the screening and conformation for hemoglobinopathies in Al Baha province, Saudi Arabia. We obtained data from four hospitals and three primary health care centers authorized to perform these screening tests. Results: The current study screened and analyzed a total of 2165 reports for suspected hemoglobinopathies. Only 121 (5.6%) reports showed abnormal hemoglobin (Hb) patterns, among which the sickle cell trait was the most common, representing 59.5% (72/121) of the reported cases. This was followed...
Journal of epidemiology and global health, 2018
The prevalence rates of β-thalassemia (β-thal) and Sickle Cell Disease (SCD) in Saudi Arabia are considered one of the highest compared to surrounding countries in the Middle East (0.05% and 4.50%, respectively). In this study, Secondary data analysis was obtained from the premarital screening and genetic counseling program (PMSGC), and included 12,30,582 individuals from February 2011 to December 2015. Prevalence rates (per 1000 population) for β-thal and SCD were calculated for carrier status, disease status and their combination. During the 5-year study period, the overall prevalence rate per 1000 population for β-thal was 13.6 (12.9 for the trait and 0.7 for the disease). The prevalence rate for SCD was 49.6 (45.8 for the trait and 3.8 for the disease). Rates for β-thal were found to decrease from 24.2 in 2011, to 12 in 2015. However, SCD rates remained rather constant and ranged from 42.3 in 2011 to 49.8 in 2015. The highest rate for both β-thal and SCD was observed in the East...
Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program
Pakistan Journal of Medical Sciences
Objectives: To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre. Methods: This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan, between January 2018 and October 2018. A total of 3,970 (male n =1,859 and female n = 2,111) individuals were included in the study. Data of complete blood count, hemoglobin electrophoresis and sickling tests of all individuals recruited in the study were obtained and statistically analyzed. Results: One thousand three hundred and twelve individuals had abnormal complete blood counts or hemoglobin electrophoresis results, that include sickle cell trait (13.5%), sickle cell disease (0.7%), β thalassemia with sickle cell trait (2.46%), β thalassemia trait (1.51%), β thalassemia major (0.075%), suspected α thalassemia or other hemoglobinopathies (4.43%), hemoglobin H (0.3%), hemoglobin E (0.075%), undiagnosed cases (0.91%) and iron def...
Frequency of Haemoglobinopathies Among Attendants of Central Laboratory and Blood Bank Al-Baha Ksa
2018
Background: Haemoglobinopathies are the most frequent single gene disorders worldwide, and particularly in the Eastern Mediterranean region, including Saudi Arabia. Information about the prevalence of sickle cell disease and thalassemia in the Southern region of Saudi including Al-Baha is not clear. The aim of this study was an attempt to determine the frequency of haemoglobinopathies among the individuals screened as part of the Saudi Premarital Screening Program at the Central Laboratory and Blood Bank Al-Baha, Saudi Arabia
Prevalence of Hemoglobinopathies in Antenatal Screening by HPLC
https://www.ijrrjournal.com/IJRR\_Vol.4\_Issue.5\_May2017/Abstract\_IJRR0016.html, 2017
We studied a total of 234 married, pregnant females coming for routine antenatal screening for presence or absence of Hemoglobinopathies over a period of one year in a tertiary level hospital. The prevalence was found to be 5.1% (12 cases). Out of these 7(2.9%) females had beta thalassemia trait and 5(2.1%) were having variant hemoglobin of which 3(1.28%) females were Hb E Heterozygous, 1(0.4%) was Hb D Punjab and 1(0.4%) was Hb Q India. Such screening for Hemoglobinopathies should be conducted as they prove to be important for the health of the mother and the child as well as spreading awareness, further screening of family members (spouses, siblings) to prevent birth of homozygous babies.
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.
Antenatal Screening for Hemoglobinopathies with HPLC
Recent Advances in Pathology & Laboratory Medicine, 2018
Introduction: Hemoglobinopathies are the most commonly encountered monogenic disorders of blood in Southeast Asia and Indian subcontinent. Screening of individuals at increased risk of being carriers for thalassemia and hemoglobinopathies, can identify couples with a 25% risk of having a pregnancy with a significant genetic disorder, for which prenatal diagnosis is possible. This study is done to know the prevalence of hemoglobinopathies and variant of haemoglobin using cation exchange high performance liquid chromatography (CEHPLC). Materials and Methods: 2 ml of venous blood was collected in EDTA vials from the pregnant mothers after informed consent. The blood was subjected to complete hemogram, peripheral blood smear and HPLC using Variant Hemoglobin Testing System (BioRad Laboratories). Beta Thalassemia short programme was used. Descriptive analysis was done and data is presented in numbers and percentages. Results: 467 blood samples from various ethnic groups were evaluated. 70 (14.99%) samples showed features of hemoglobinopathies by HPLC. There were 46 (9.85%) cases of HbE heterozygous,12 (2.57%) cases of HbE homozygous, 9(1.93%) cases of Beta Thalassemia Trait, 2 (0.43%) cases of double heterozygous and 1 (0.21%) case of Hb-D Iran. Conclusion: This study showed a high prevalence of hemoglobinopathies in antenatal mothers necessitating an appropriate screening strategy for antenatal mothers. We also concluded that HPLC is a sensitive technique for studying hemoglobinopathies during pregnancy and may be utilized for screening.