scholarly journals Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

2019 ◽  
Vol 35 (6) ◽  
Author(s):  
Hassan Abdu Hamali ◽  
Muhammad Saboor
Keyword(s):  
Sickle Cell ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Thalassemia Major ◽  
Research Centre ◽  
Potential Threat ◽  
Hemoglobin E ◽  
Iron Deficient ◽  
Premarital Screening

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 deficient (7.23%). Conclusion: A high percentage of individuals are suspected for α thalassemia or other hemoglobinopathies that needs to be diagnosed. Further investigations shall be included in the premarital screening program to diagnose these inconclusive cases. Coexistence iron deficiency with thalassemia shall also be ruled out during premarital screening program. doi: https://doi.org/10.12669/pjms.35.6.976 How to cite this:Hamali HA, Saboor M. Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. Pak J Med Sci. 2019;35(6):1611-1615.  doi: https://doi.org/10.12669/pjms.35.6.976 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals The Prevalence of β-Thalassemia and Other Hemoglobinopathies in Kuwaiti Premarital Screening Program: An 11-Year Experience

2021 ◽  
Vol 11 (10) ◽  
pp. 980
Author(s):  
Najat Rouh AlDeen ◽  
Asmaa A Osman ◽  
Monira J Alhabashi ◽  
Rasha Al Khaldi ◽  
Hassan Alawadi ◽  
...  
Keyword(s):  
High Risk ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Health Care Systems ◽  
Adult Population ◽  
Maternity Hospital ◽  
Diagnostic Laboratory ◽  
Care Systems ◽  
Premarital Screening

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 (SCA). 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 needed to improve the program’s main objective of decreasing high-risk marriages. In particular, health care systems should be ameliorated in a way to intensify the counselling mechanism for the high-risk couples, strengthen the awareness of the general population and induce earlier age screening policies.

APPROACHES TO SCREENING

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman
Keyword(s):  
Newborn Screening ◽  
Sickle Cell ◽  
Community Education ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Tertiary Care ◽  
The State ◽  
Public Health Department ◽  
Newborn Screening Program ◽  
Tertiary Care Centers

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980. The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing. The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation. Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).

scholarly journals Predictors of cerebral blood flow in patients with and without anemia

2016 ◽  
Vol 120 (8) ◽  
pp. 976-981 ◽  
Author(s):  
Matthew T. Borzage ◽  
Adam M. Bush ◽  
Soyoung Choi ◽  
Aart J. Nederveen ◽  
Lena Václavů ◽  
...  
Keyword(s):  
Blood Flow ◽  
African American ◽  
Cerebral Blood Flow ◽  
Oxygen Content ◽  
Sickle Cell ◽  
Oxygen Supply ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Supply And Demand ◽  
Cerebrovascular Reserve

Sickle cell disease (SCD) is the most common cause of stroke in childhood and results primarily from a mismatch of cerebral oxygen supply and demand rather than arterial obstruction. However, resting cerebral blood flow (CBF) has not been examined in the general African American population, in whom obesity, hypertension, cerebrovascular disease, and diminished cerebrovascular reserve capacity are common. To better understand the underlying physiological substrate upon which SCD is superimposed, we measured CBF in 32 young (age 28 ± 10 yr), asymptomatic African American subjects with and without sickle cell trait ( n = 14). To characterize the effects of chronic anemia, in isolation of sickle hemoglobin we also studied a cohort of 13 subjects with thalassemia major ( n = 10), dyserythropoetic anemia ( n = 1), or spherocytosis ( n = 2). Blood was analyzed for complete blood count, hemoglobin electrophoresis, cell free hemoglobin, and lactate dehydrogenase. Multivariate regression analysis showed that oxygen content was the strongest predictor of CBF ( r2 = 0.33, P < 0.001). CBF declined rapidly in the second and third decades of life, but this drop was explained by reductions in cerebral gray matter. However, age effects persisted after correction for brain composition, possibly representing microvascular impairment. CBF was independent of viscosity, hemoglobin S%, and body mass index. Hyperoxia resulted in reduced CBF by 12.6% ( P = 0.0002), and CBF changes were proportional to baseline oxygen content ( r2 = 0.16, P = 0.02). These data suggest that these hemoglobin subtypes do not alter the normal CBF regulation of the balance of oxygen supply and demand.

scholarly journals THE USE OF HPLC AS A TOOL FOR NEONATAL CORD BLOOD SCREENING OF HAEMOGLOBINOPATHY - A VALIDATION STUDY

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
A. Al-Madhani ◽  
Anil Pathare ◽  
Salam Alkindi
Keyword(s):  
Cord Blood ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
Dna Analysis ◽  
Complete Blood Count ◽  
Screening Program ◽  
Carrier Status ◽  
Original Cohort ◽  
Hb Bart's ◽  
Blood Screening

Background: Newborn cord blood screening identifies infants with underlying haemoglobinopathies before they develop the characteristic symptoms or sequelae. Aims: This study was performed to validate the interpretation high-performance chromatography (HPLC) along with complete blood count (CBC) results as a tool for universal neonatal screening of hemoglobin disorders in Oman. Methods: HPLC and CBC data on subjects who participated in the National Neonatal screening program at birth were obtained from archival records. The results recorded at birth were compared with a second study performed on the same subjects, after approval from the local medical research and ethics committee.Results: Only 290 subjects from amongst the original cohort of 3740 newborns could be recalled between April 2010 to March 2011, to repeat HPLC and CBC, as well as perform confirmatory DNA studies, wherever necessary. All these subjects had been documented to show an initial abnormal result. 31 cases who had no HbA at birth on HPLC were confirmed as either homozygous β-thalassaemia major (n=5 subjects) or homozygous sickle cell anemia (n=26 subjects) by appropriate DNA analysis. Additionally, amongst 151 subjects, 72 subjects were studied in the initial study by Hb Bart’s quantitation using aalpha thalassaemia short program at birth. In this cohort, 42 subjects with Hb Bart’s >1% at birth could be confirmed as having either deletional or non-deletional thalassaemia by GAP PCR studies. No case of HbH was detected in this cohort. Further, carrier status for structural hemoglobin variants (HbS, HbC, HbD, HbE) (n=67) and beta thalassaemia allele with low HbA at birth (n=29 out of 41) were confirmed by relevant molecular studies.Conclusions: The study validated the earlier observation by 100% concordance with results of CBC and HPLC. Presence of Hb Bart’s at birth does not always mean the presence of alpha thalassemia, as subjects with Hb Bart’s was below 1% by quantitation, were shown to be normal by molecular studies. Key Words: Neonatal, screening, HPLC validation, haemoglobinopathy, sickle cell disease, thalassaemia 

scholarly journals A Policy Impact Analysis of the Mandatory NCAA Sickle Cell Trait Screening Program

2011 ◽  
Vol 47 (1pt2) ◽  
pp. 446-461 ◽  
Author(s):  
Beth A. Tarini ◽  
Margaret Alison Brooks ◽  
David G. Bundy
Keyword(s):  
Sickle Cell ◽  
Impact Analysis ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Policy Impact

scholarly journals Knowledge and response of the community to premarital screening program (Sickle Cell Anemia\Thalassemia); AlMadinah, Saudi Arabia

2018 ◽  
Vol 9 (2) ◽  
pp. 59
Author(s):  
AbdulrahmanA Bedaiwi ◽  
ReemS AlQahtani ◽  
AliM Alburkani ◽  
MajidM AlFahed ◽  
RawanA Alhoraibi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Screening Program ◽  
Premarital Screening

scholarly journals A clinico-haematological study of hereditary hemoglobinopathies: a tertiary care centre experience

2021 ◽  
Vol 9 (8) ◽  
pp. 2309
Author(s):  
Bhagyalakshmi Atla ◽  
Venkata Satya Kartheek Botta ◽  
Padmapriya Balakrishnan ◽  
Neelima Lalam ◽  
Anuradha Argi ◽  
...  
Keyword(s):  
Sickle Cell ◽  
High Performance ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
Tertiary Care ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Common Symptom ◽  
Tertiary Care Centre

Background: Hemoglobinopathies are the cause of concern in India for not only its effect on the quality of life in patients but also for their inheritance patterns. Tribal population of Visakhapatnam district has a high chance of inheriting hemoglobinopathies due to their culture of consanguineous marriage. Aim and objectives of current study were to know the distribution of various abnormal haemoglobins in cases with clinical suspicion of hemoglobinopathies.Methods: This hospital-based observational study was conducted for a period of 10 months in the department of pathology, Andhra Medical College, Visakhapatnam. A total of 151 cases with suspected hemoglobinopathies, their parents, and siblings were screened for the presence of hemoglobinopathies. 3ml of venous blood was collected to perform complete blood count, peripheral smear, reticulocyte count, sickling test and High Performance liquid chromatography (HPLC).Results: In the present study, out of 151 cases, 55 cases (36.42%) were adults, and 96 cases (63.57%) cases were children. 67cases (44.37%) were asymptomatic and 84 (55.62%) were symptomatic. The most common symptom of subjects are fever (23 cases, 27.38%) and dyspnoea (22 cases, 26.19%). 85 cases (56.29%) had normal HPLC, and 66 cases (43.70%) had abnormal hemoglobin variants. The most common hemoglobinopathy detected by HPLC was sickle cell trait (36 cases, 23.84%) followed by homozygous sickle cell anemia 15 (9.93%). Other hemoglobinopathies detected were beta-thalassemia trait; 8 cases (5.29%) and compound heterozygous sickle beta-thalassemia 3 cases (1.98%).Conclusions: Endemic areas for hemoglobinopathies has to be screened with HPLC along with complete hemogram in suspicious cases for the better diagnosis and management of the condition.

Hemoglobin S Screening Using the « Sickle Scan » - Biomedomics System. the Necker-Enfants Malades Hospital Experience

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1308-1308 ◽  
Author(s):  
Louis MINE ◽  
Thao Nguyen-Khoa ◽  
Birch Allaf ◽  
Jean-Antoine Ribeil ◽  
Christelle Remus ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Extreme Values ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
False Negative ◽  
Cross Reactivity ◽  
Adult Patients ◽  
Hemoglobin E ◽  
Hb S ◽  
Hb C

Abstract Context: The principle of Sickle Scan (Biomedomics, Inc.) is a rapid, point-of-care qualitative lateral flow immuno-assay kit for the identification of sickle cell conditions of Hb A, S and C. Sickle Scan was specifically developed to allow for the identification of sickle cell trait Hb AS, heterozygotes AC, and Hb SS, Hb SC and Sβ° patients. Other sickle cell conditions as SD, SE, SO-Arab, S Lepore,… cannot be identified using Sickle Scan system. The test must be done using venous blood or capillary blood (fresh or dried blood spots). Patients and methods: Two hundred and fifty patient samples (143 adults and 107 newborns) were analyzed. All tests were performed according the manufacturer's recommendations in one laboratory by 2 observers. The reference tests used for comparison were HPLC (NBS Variant - Bio-Rad) and capillary electrophoresis (Capillarys 3 - Sebia). Results: Comments: In adult patients, the 2 observers concordantly detected the presence of Hb A, Hb S and Hb C. There were 4 differences of interpretation between them (no Hb A in a AS patient and no Hb A in 3 SS transfused patients). The percentage of Hb A in these 3 last patients was respectively 13.6%, 17.7% and 18%. There was no false positivity neither in the patient heterozygous AE nor in the patient SD. No false negativity occurred for Hb S and C. In newborns, the accuracy of the test was excellent for the identification of the phenotypes FA, FAS, FAC, FS (SS / Sβ°). The lowest detected values of Hb S and Hb C in FAS and FAC newborns were respectively 2.4 and 3.4 %. We observed an inconstant cross-reactivity of the antibody anti Hb S with the hemoglobins E and D, in respectively 3/25 FAE phenotype and 6/26 in the FAD phenotype. There was no cross reaction with hemoglobin Bart's and O-Arab. In FAS newborns the mean and extreme values of the percentage of Hb A were m=8.2 (2.6-15.5) and no difficulties occurred for the identification of these low percentages of Hb A. This observation is different from those made in adult patients for which one observer did not find Hb A in transfused patients with highest values of Hb A comprised between 13.6 and 18. Conclusions: In this series of adult and newborn patients, the Sickle Scan appeared as an accurate method for the identification of AS, AC, SS/Sβ° and SC phenotypes. False positive tests were observed in some patients with hemoglobin E or D but no false negative results were found as regards the identification of Hb S and Hb C. Table Table. Disclosures Ribeil: Bluebirdbio: Consultancy; Addmedica: Research Funding.

scholarly journals Spectrum of types of thalassemias and hemoglobinopathies: study in a tertiary level children hospital in Bangladesh

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Waqar A. Khan ◽  
Bilquis Banu ◽  
Salma Sadiya ◽  
Golam Sarwardi
Keyword(s):  
Sickle Cell ◽  
High Performance ◽  
Sickle Cell Trait ◽  
Fetal Hemoglobin ◽  
Thalassemia Major ◽  
Hb E ◽  
Short Program ◽  
Abnormal Hemoglobin ◽  
Hereditary Persistence ◽  
The Common

Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples were analyzed for hemoglobin disorders out of which 2308 (49.95%) showed abnormalities. The samples were analyzed by Bio Rad D 10 Analyzer in 3914 (81.32%) cases, BIORAD VARIANTβ thalassemia short program using the principle of high performance liquid chromatography in 474 (9.85%) cases and by CAPILLARYS 2 FLEX PIERCING utilizing capillary electrophoresis in 425 (8.83%) cases. The samples were analyzed in the Department of Biochemistry and Molecular Biology of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh. The common hemoglobin disorders seen were β trait 863 (17.94%), Hb E trait 601 (12.50%), Hb E β thalassemia 524 (10.87%), β thalassemia major 192(4.00 %), Hb E disease 99 (2.05%). Other Hb abnormalities detected were Hb D trait 17 (0.35%), Sickle cell trait 4 (0.08%), hereditary persistence of fetal hemoglobin (HPFH) 2 (0.04%), and Hb Lepore, δ β thalassemia, sickle cell β thalassemia, Sickle cell disease, compound heterozygote for HbE+D and Hb Q band one case each (0.02%). 与世界许多地方一样，地中海和血红蛋白病是孟加拉国最常见的溶血性先天性疾病。本研究的目的是找到孟加拉国人群的常见地中海贫血类型和异常血红蛋白变体。总共对4813例样本进行了血红蛋白疾病分析，其中2308例（49.95%）显示异常。3914例（81.32%）样本使用Bio Rad D 10分析仪分析，由BIORAD VARIANTβ地中海贫血症短期计划使用高效液相色谱法分析了474例（9.85%），由CAPILLARYS 2 FLEX PIERCING使用毛细管电泳分析了425例（8.83%）。样本在孟加拉达卡的达卡生化与分子生物学教研室进行分析。观察到的常见血红蛋白疾病是863例（17.94%）β特征、601例（12.50%）Hb E特征、524例（10.87%）Hb E β地中海贫血、192例（4.00 %）β重型地中海贫血、99例（2.05%）Hb E疾病。检测到的其他Hb异常为17例（0.35%）Hb D特征、4例（0.08%）镰状细胞性状、2例（0.04%）遗传性持续性胎儿血红蛋白综合征（HPFH）以及Hb Lepore δ β地中海贫血、镰状细胞β地中海贫血、镰状细胞病、HbE+D和Hb Q带的复合杂合体各一例（0.02%）。

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