Utility of hemoglobin electrophoresis to distinguish between severe delayed hemolytic transfusion reaction versus hyperhemolysis syndrome.

Delayed hemolytic transfusion reaction (DHTR) and hyperhemolysis syndrome (HHS) are both complications of red blood cell transfusions in patients with sickle cell disease.Clinically, both present with hemolysis and can be difficult to differentiate. Hemoglobin electrophoresis may aid in the diagnosis. Herein we describe a case in which a patient with hemoglobin SC disease presented with features of severe hemolysis several days after initiation of red blood cell exchange. Increase in reticulocyte count and complete absence of hemoglobin A on electrophoresis during this event supported the diagnosis of severe DHTR, indicating a rapid and selective destruction of the transfused red blood cells. Ability to interpret the hemoglobin electrophoresis can help clinicians distinguish between these two severe transfusion complications in patients living with sickle cell disease. It is important to identify the presence or absence of concomitant HHS, as patients with HHS tend to have a worse prognosis and there is a higher rate of recurrence of HHS with subsequent transfusions. Accurate diagnosis can lead to prompt management and decrease morbidity and mortality.

Development of a new staining protocol for the Kleihauer-Betke test to facilitate the reading of difficult cases.

BACKGROUND: The Kleihauer-Betke (KB) test allows the detection of fetal red blood cells (containing fetal hemoglobin, HbF) in the maternal blood to identify and quantify potential fetal-maternal hemorrhages. In certain cases, detecting fetal red blood cells with conventional staining is difficult. False-positive results or overestimation of the quantity of fetal red blood cells may occur in cases of maternal hemoglobinopathy. In this study, we developed a new staining protocol to facilitate the reading of difficult smears and improve the precision of the quantification of fetal red blood cells; we also analyzed the performance of this new method. This study assessed blood samples with and without hemoglobin abnormalities, which present difficulties when interpreting the KB test. METHODS: The new staining formula is based on an improved elution technique and the use of a different stain instead of hematoxylin. To test this staining method, 16 samples from patients with abnormal hemoglobin electrophoresis and 14 samples from patients with normal hemoglobin electrophoresis were analyzed using the KB test with the classical staining method and the new staining method. In addition, a second series was prepared using the same samples spiked with fetal red blood cells from newborn blood, to compare the accuracy of the two methods in identifying fetal red blood cells. RESULTS: In the 60 slides analyzed with both staining methods, we found that the new technique improved the accuracy from 78 to 85%; lowered the coefficient of variation between the operators, which decreased from 20.7% to 12.7%; increased the specificity in our population from 56 to 70%; and decreased the number of false-positive cases by 30%. CONCLUSIONS: We successfully developed a new staining technique that facilitates the reading of difficult slides and improves the specificity of the detection of fetal red blood cells. This technique is recommended as a secondary method to use before sending the sample for additional exploration.

Impacto del Programa de prevención de anemia por hematíes falciformes

Introducción: la anemia de células falciformes es una enfermedad genética autosómica recesiva considerada la enfermedad hereditaria más frecuente en Cuba. El Programa Cubano de prevención de anemia por hematíes falciformes, se basa en el pesquisaje mediante estudio de electroforesis de hemoglobina a todas las gestantes, el cual es aplicado desde el año 1983. Objetivo: describir el impacto del Programa Cubano de prevención de anemia por hematíes falciformes en Granma, en el período de 1987-2021. Métodos: se realizó un estudio observacional, ambipestivo, de serie de casos en las gestantes pertenecientes a la provincia Granma en el período 1987-2021. Se revisaron las estadísticas de los departamentos municipales y provincial. Se analizaron las variables como frecuencia de portadoras, variantes de hemoglobina, cobertura de esposos estudiados, diagnóstico prenatal molecular y casos positivos. Para el análisis estadístico se emplearon medidas de resumen como frecuencias absolutas y relativas. Resultados: se comprobó que la frecuencia de portadoras de la provincia es de 3,9 %. La variante más frecuente es la Hb AS. Se estudiaron 62 % de los esposos. Se realizó el 70,3 % de los diagnósticos moleculares, de los cuales 21,3 % fue positivo optando por la terminación voluntaria de la gestación en el 69 % de ellos. Conclusiones: se logró impacto del Programa Cubano de prevención de anemia por hematíes falciformes en el período de 1987-2021 en cuanto a la detección de portadoras de la enfermedad, frecuencia de diagnósticos prenatales moleculares, enfermos e interrupciones por esta causa.

Introduction: Sickle cell anemia is an autosomal recessive genetic disease. It is considered the most common hereditary disease in Cuba. The Cuban sickle cell anemia prevention Program is based on the screening of all pregnant women by hemoglobin electrophoresis. This program has been applied since 1983. Objective: To describe the impact of the Cuban sickle cell anemia prevention Program during the period 1987-2021. Methods: An observational study was conducted on a series of cases of pregnant women belonging to the province of Granma in the period from 1987 to 2021. Municipal and provincial statistics were reviewed. Variables such as carrier frequency, hemoglobin variants, coverage of studied spouses, molecular prenatal diagnosis, and positive cases were analyzed. Summary measures such as absolute and relative frequencies were used for statistical analysis. Results: The carrier frequency in the province was found to be 3.9%. The most common variant is Hb AS. Sixty-two percent of spouses were screened. Molecular diagnosis was performed in 70.3%, of which 21.3% were positive and 69% opted for voluntary abortion. Conclusions: The Cuban Sickle Cell Disease Prevention Program has had a great impact on halting the number of carriers of the disease, the frequency of prenatal molecular diagnoses, and the number of patients with sickle cell anemia in the period 1987-2021.

Introdução: A anemia falciforme é uma doença genética autossómica recessiva, sendo considerada a doença hereditária mais comum em Cuba. O programa cubano de prevenção da anemia falciforme baseia-se no rastreio de todas as mulheres grávidas através da eletroforese da hemoglobina, que tem sido aplicado desde 1983. Objetivo: Descrever o impacto do Programa Cubano de Prevenção da Anemia Falciforme durante o período 1987-2021. Métodos: Foi realizado um estudo observacional de uma série de casos de mulheres grávidas pertencentes à província de Granma no período de 1987 a 2021. Foram revistas estatísticas municipais e provinciais. Foram analisadas variáveis como frequência de portadores, variantes de hemoglobina, cobertura de cônjuges estudados, diagnóstico pré-natal molecular e casos positivos. Para a análise estatística foram utilizadas medidas de síntese como frequências absolutas e relativas. Resultados: A frequência de portadores na província foi de 3,9%. A variante mais comum é a Hb AS. Sessenta e dois por cento dos cônjuges foram rastreados. O diagnóstico molecular foi efectuado em 70,3%, dos quais 21,3% foram positivos e 69% optaram pelo aborto voluntário. Conclusões: O Programa Cubano de Prevenção da Doença Falciforme teve um grande impacto na redução do número de portadores da doença, na frequência dos diagnósticos moleculares pré-natais e no número de pacientes com anemia falciforme no período 1987-2021.

Iron Deficiency Anemia Presenting With Pancytopenia: A Study From India.

INTRODUCTION: Iron deficiency anemia (IDA) is the most common cause of anemia worldwide. IDA is commonly associated with thrombocytosis and normal or slightly decreased leukocyte count. Sometimes it can present with thrombocytopenia, but rarely present with pancytopenia. Here we are presenting six cases of severe iron deficiency presenting with pancytopenia, which responded to iron replenishment. METHODS:  This 12-month observational study was conducted in the Department of General Medicine at a tertiary care Centre in India. All cases of pancytopenia (after exclusion of other causes) with IDA were included. IDA was established with the help of a complete blood count (CBC), peripheral smear examination, serum iron studies, and serum ferritin.  Results: In our study, CBC at four weeks later of iron transfusion without other supplementation showed significant improvement in hematological parameters. CONCLUSION:  Severe iron deficiency is a reversible etiology of pancytopenia. It should be kept as a differential diagnosis of pancytopenia if common causes of pancytopenia are ruled out.

Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population

ABSTRACT Introduction: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. Objectives: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. Methods: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. Results: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. Conclusions: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

[Causes of Abnormal Hemoglobin Electrophoresis].

OBJECTIVE: To investigate the possible causes of abnormal hemoglobin electrophoresis results. METHODS: The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed. RESULTS: The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of ß thalassemia and 9 cases of αß thalassemia. Among the patients with elevated HbA2, 68.67% were detected ß thalassemia, 3.00% αß thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J. CONCLUSION: Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.

Central Retinal Artery Occlusion in a Young Patient With a Hidden Unusual Sickle Cell Trait.

Sickle cell trait is considered a benign condition. Ophthalmic manifestations are infrequent but can result in significant visual deterioration. We present a case of a 33-year-old male, not known to have any medical illnesses, who presented to the ophthalmological emergency room complaining of a sudden onset of painless and profound left eye vision loss for 12 hours. The patient denied any medication use, past eye trauma, or surgery. On detailed ophthalmologic examination, the best-corrected visual acuity (BCVA) was 20/20 in the right eye and hand movement in the left eye. Dilated fundus examination of the left eye showed a central retinal artery occlusion (CRAO) with pale, white retinal swelling and a macular cherry-red spot. Fundus fluorescein angiography showed delayed arterial filling with persistently reduced macular perfusion. CRAO was diagnosed in an otherwise healthy young male. Systemic workup was negative except for protein electrophoresis, which showed sickle cell trait, and HbA1C was 7.8%. Later, atrophic macular changes with a pale optic disc were observed, and BCVA was reduced to light perception. CRAO in young patients amounts to diverse causes, which require extensive systemic workup. In addition, the concurrence of the sickle cell trait with diabetes mellitus might have a role in CRAO development.

Differences in the distribution of hemoglobin variants according to the geographic regions in a Colombian population.

INTRODUCTION: Colombia has been subject to intense genetic and cultural currents due to its geographical location. Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. OBJECTIVES: To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. METHODS: This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. RESULTS: A total of 2,224 results were analyzed, 48.4% male and 51.5% female; 63.3% of patients were without alterations, 14.3% presented with thalassemia, 17.3%, HbS, 2.3%, HbS/C, 1.8%, HbC, 0.5%, HbE and 0.5% persistent HbF, with HbS being more prevalent in males (p = 0.005). When assessing the geographical regions of Colombia, a higher prevalence of HbS was found in the Pacific (p = 0.005) and Caribbean regions, while Thalassemia and HbS were more prevalent in the Andean and Orinoquia regions, and it was rare to find any hemoglobinopathies (p = 0.0001) in the Amazonian region. CONCLUSIONS: The main hemoglobinopathies found in Colombia are HbS, predominantly in males, and Thalassemia. The distribution of hemoglobinopathies in different geographical regions of Colombia is influenced by ancestry.

Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.

BACKGROUND: Erythrocyte parameter analysis is the important means for diagnosis and treatment of hematological diseases, which are essential for screening of thalassemia in southern China combined with hemoglobin electrophoresis analysis. But little is known regarding the reference intervals (RIs) in healthy pediatrics in these two areas. METHODS: 95% RIs of erythrocyte parameters were calculated from 853 healthy preschoolers, aged from 1 days to <6 years, according to the C28-A3C guidelines of the Institute of Clinical and Laboratory Standards. To express the magnitude of sex and age variation, standard deviation ratio (SDR) was calculated using ANOVA. Concurrently, we selected 3814 thalassemia carriers as carriers group and drew receiver operating characteristic (ROC) curves to establish the optimal cut-off values of hemoglobin electrophoresis parameters, which were used as the upper/lower limits of RIs to efficiently screen thalassemia. RESULTS: All parameters except red blood cell (RBC) required age partitioning, confirmed by SDRage above .4. There was no need for sex partitioning on all parameters, confirmed by SDRsex below .4. The optimal cut-off value of Hemoglobin A2 (Hb A2) in the four subgroups was <7.8% (Hb A), 2.3%-3.2%, 2.5%-3.6% and 2.6%-3.6%, respectively. CONCLUSION: In this study, the establishment of RIs improved the diagnostic efficiency of hematological disease (especially thalassaemia) for children in Guangxi. It provides reliable hematological references for the identification and diagnosis, treatment monitoring, and health screening of children's clinical diseases.

Causes of Abnormal Hemoglobin Electrophoresis / 中国实验血液学杂志

OBJECTIVE@#To investigate the possible causes of abnormal hemoglobin electrophoresis results.@*METHODS@#The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed.@*RESULTS@#The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of β thalassemia and 9 cases of αβ thalassemia. Among the patients with elevated HbA2, 68.67% were detected β thalassemia, 3.00% αβ thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J.@*CONCLUSION@#Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.

Challenge and difficulty of diagnosing hemoglobinopathies in newborns: about a case / Enjeu et difficulté du diagnostic des hémoglobinopathies chez le nouveau-né : à propos d'un cas

The diagnosis of hemoglobinopathy is based on a range of arguments: clinic, results of a blood count, the haemoglobin study and possibly a genetic study of the globin chains. The interpretation of these profiles can be complicated, especially in newborns due to the ontogenesis of globin genes. The clinical impact can range from simple microcytosis without anemia to severe anemia requiring iterative transfusions and various clinical symptoms depending on the number and type of chains produced. Knowledge of a hemoglobin pathology remains essential because of the possible transmission and combination of these anomalies to offspring.

Le diagnostic d'une hémoglobinopathie repose sur un faisceau d'arguments : la clinique, les résultats d'une numération formule sanguine, l'étude de l'hémoglobine et éventuellement une étude génétique des chaînes de globines. L'interprétation de ces profils obtenus peut être compliquée, en particulier chez le nouveau-né du fait de l'ontogénèse des gènes de globines. Le retentissement clinique peut aller de la simple microcytose sans anémie à une anémie sévère nécessitant des transfusions itératives et divers symptômes cliniques selon le nombre et le type de chaînes produites. La connaissance d'une pathologie de l'hémoglobine reste néanmoins essentielle du fait de la transmission et de la combinaison possible des anomalies à la descendance.

HemoTypeSC point-of-care testing shows high sensitivity with alkaline cellulose acetate hemoglobin electrophoresis for screening hemoglobin SS and SC genotypes

ABSTRACT Introduction: By providing timely actionable results for prompt management, point-of-care testing (POCT) kits have revolutionised medical care for various diseases, ranging from infectious diseases like malaria to genetic disorders, such as sickle cell disease (SCD). They are, however, underutilised in the diagnosis of SCD in developing countries, where the need is greatest. Objective: The study was aimed at assessing the sensitivity of HemoTypeSC POCT among a cohort of children with SCD, previously diagnosed by Alkaline cellulose acetate hemoglobin electrophoresis (ACAE), with or without high-performance liquid chromatography (HPLC). Methods: In this descriptive cross-sectional study, HemoTypeSC test was conducted on all participants and its sensitivity was determined by comparing results with those obtained using ACAE. Discordance was verified with HPLC. Results: One hundred and forty-five children aged one to 19 years were studied. There were 84 males and 61 females (male: female ratio = 1.4:1). The HemoTypeSC was able to correctly diagnose sickle cell anemia (SCA) and hemoglobin SC in all (100%) of the children tested. Conclusion: The HemoTypeSC shows high sensitivity in detecting SCA and hemoglobin SC. Hence, it is useful for targeted screening of individuals suspected of having SCD, leading to rapid diagnosis of these hemoglobinopathies, even in resource-constrained settings.

Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.

BACKGROUND: Sickle-cell anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. DNA testing can help to clarify the diagnosis when Hb electrophoresis is inconclusive. We evaluated the usefulness and feasibility of DNA-based diagnosis of SCA in rural Central Africa. METHODS: This is a cross-sectional study conducted from November 2016 to end October 2017 in the Hôpital Saint Luc de Kisantu, located 120 km from Kinshasa. This hospital offers the management of SCA patients, mainly identified using the Sickling test (Emmel test) combined with clinical features. We included patients aged 6 months to 18 years locally diagnosed as SCA, and we collected clinical and hematological data. All patients were offered Hb electrophoresis and DNA testing at the Center for Human Genetics of the University of Kinshasa. RESULTS: This study included 160 patients. Hemoglobin capillary electrophoresis suggested that 136 (85%) were homozygote SS, 13 (8.1%) were heterozygote (AS), and 11 (6.9%) were homozygote normal (AA). DNA testing confirmed these electrophoresis findings, with the exception of four patients, two AS in electrophoresis were found SS due to recent transfusion, and two SS in electrophoresis were found AS because they have compound heterozygous form S/ß°-thalassemia. The diagnosis of SCA was therefore wrongly ascertained with Emmel test in 15% of patients. CONCLUSION: This study reveals a high proportion of false-positive SCA diagnoses in a rural environment in Central Africa. This underlines the importance of DNA testing in conjunction with Hb electrophoresis.

Hemoglobin Wayne causing a falsely elevated hemoglobin A1c.

Hemoglobin A1c (HbA1c) is an important tool for diagnosis and management of patients with diabetes mellitus (DM). However, hemoglobin variants can interfere with laboratory assays and lead to inaccurate results. This study describes a patient who was found to have falsely elevated HbA1c values secondary to hemoglobin Wayne, a rare hemoglobin variant. Although hemoglobin Wayne is often clinically silent, falsely elevated HbA1c results could lead to unnecessary medical interventions that could cause patient harm. This variation in results highlights the importance of utilizing additional measurements such as glucose readings and evaluating for hemoglobin variants when results are discordant.

HemoTypeSC point-of-care testing shows high sensitivity with alkaline cellulose acetate hemoglobin electrophoresis for screening hemoglobin SS and SC genotypes.

INTRODUCTION: By providing timely actionable results for prompt management, point-of-care testing (POCT) kits have revolutionised medical care for various diseases, ranging from infectious diseases like malaria to genetic disorders, such as sickle cell disease (SCD). They are, however, underutilised in the diagnosis of SCD in developing countries, where the need is greatest. OBJECTIVE: The study was aimed at assessing the sensitivity of HemoTypeSC POCT among a cohort of children with SCD, previously diagnosed by Alkaline cellulose acetate hemoglobin electrophoresis (ACAE), with or without high-performance liquid chromatography (HPLC). METHODS: In this descriptive cross-sectional study, HemoTypeSC test was conducted on all participants and its sensitivity was determined by comparing results with those obtained using ACAE. Discordance was verified with HPLC. RESULTS: One hundred and forty-five children aged one to 19 years were studied. There were 84 males and 61 females (male: female ratio = 1.4: 1). The HemoTypeSC was able to correctly diagnose sickle cell anemia (SCA) and hemoglobin SC in all (100%) of the children tested. CONCLUSION: The HemoTypeSC shows high sensitivity in detecting SCA and hemoglobin SC. Hence, it is useful for targeted screening of individuals suspected of having SCD, leading to rapid diagnosis of these hemoglobinopathies, even in resource-constrained settings.

Disputed paternity presumption in Burkina Faso: determination of the biological fathers of children using ABO-rhesus/hemoglobin electrophoresis and STR assays.

BACKGROUND: In resource-limited countries, ABO, HLA, MNS, Kells, and hemoglobin electrophoresis are classic tests for the resolution of paternity disputes due to their affordable cost. The limitations of these tests in cases of disputed paternity require the use of Short Tandem Repeats (STR) for their certification. This study aimed to determine the biological fathers of children using ABO-rhesus/hemoglobin electrophoresis and STR assays in Burkina Faso, West Africa. RESULTS: Of the fourteen trios studied, the ABO-rhesus/hemoglobin electrophoresis analysis revealed ten probable inclusion cases, three exclusion cases, and one undetermined paternity. DNA STR analysis found five inclusions of paternity out of the ten probable inclusions with ABO-rhesus/hemoglobin electrophoresis assay versus nine exclusions of paternity. CONCLUSION: This study showed that the implementation of the analysis of short tandem repeat is required to resolve increasing disputed filiation cases in Burkina Faso.

Prevalence of hemoglobin abnormalities in an apparently healthy population in Benin

ABSTRACT Background: Sickle cell disease is the most common monogenic disorder in humans and is a major public health concern in sub-Saharan Africa. In Benin, the prevalence of sickle cell disease is estimated to be 4.8%. Our study aimed to describe the prevalence of hemoglobin abnormalities in an apparently healthy Benin population. Methods: One thousand four hundred and eighty-three men and women, apparently in good health after medical screening, were tested for hemoglobin abnormalities by hemoglobin electrophoresis and the Emmel test. Subjects who were found to have homozygous or double heterozygous hemoglobin abnormalities, were re-sampled and a confirmation hemogram and hemoglobin electrophoresis test by capillary electrophoresis was performed. Results: Our study population was predominantly male (97.7%) with an average age of 21.3 years. 1390 subjects reported that they did not know their hemoglobin electrophoresis status. Hemoglobin electrophoresis profiles found were as follows: 1077 (72.6%) AA (normal), 238 (16.1%) AS, 161 (10.9%) AC, 3 (0.2%) SC, 4 (0.2%) CC and 0 (0%) SS. The 406 subjects with abnormal hemoglobin had balanced somatic growth, with general physical examination results showing no abnormalities. In the seven subjects with major sickle cell syndrome or hemoglobinosis (SC and CC), their values of various hemogram parameters were normal apart from the discreet presence of microcytic anemia. Conclusion: Our study highlights the need for increased routine testing of hemoglobin abnormalities and newborn screening for sickle cell disease in order to enhance early disease detection, prevention and comprehensive care.

The prevalence of sickle cell trait in Division I university athletics programs.

Objectives: To determine the prevalence of student-athletes with sickle cell trait (SCT) and describe their demographics, prior knowledge of status, and hemoglobin (Hb) profile. Methods: A retrospective chart review was conducted at two National Collegiate Athletic Association Division I universities. Participants were student-athletes during the 2010/11-2018/19 academic years. The independent variable was SCT status. Main outcome measures included actual prevalence of SCT positive student-athletes, sex, race, sport, prior knowledge of personal and family history SCT status, and Hb profile (HbA, HbA2, HbS, HbF, HbC) proportions. Results: Fifty-three SCT positive student-athletes (13.2 ± 2.0 per academic year) were identified, accounting for ~1% of the student-athlete population annually. The majority were Black/African-American (n = 49, 100.0%; 4 missing) and males (n = 44, 83.0%). Football had the majority (n = 28, 52.8%) of SCT student-athletes. Most student-athletes were unaware of their SCT status (n = 33, 62.3%). There was no difference between actual and expected prevalence of SCT student-athletes overall and by race in any academic year (p > 0.05). Results of Hb electrophoresis testing were available for 44 (83.0%) student-athletes. Average values for HbA, HbA2, HbS, HbF and HbC were 58.54 ± 4.26%, 3.42 ± 0.53%, 37.99 ± 4.60%, 0.17 ± 0.68% and 0.00 ± 0.00%, respectively. Conclusions: Student-athletes with SCT were a small proportion of the student-athlete population. The majority of SCT student-athletes had no prior knowledge of personal or family history; therefore, it is insufficient to rely on self-reported history. No difference was found between actual and expected prevalence of SCT student-athletes. Due to high proportion of student-athletes who are unaware of their SCT status, institutions should facilitate SCT screening with confirmatory testing for all student-athletes to prevent missed identification of those with SCT.

Prevalence of hemoglobin abnormalities in an apparently healthy population in Benin.

BACKGROUND: Sickle cell disease is the most common monogenic disorder in humans and is a major public health concern in sub-Saharan Africa. In Benin, the prevalence of sickle cell disease is estimated to be 4.8%. Our study aimed to describe the prevalence of hemoglobin abnormalities in an apparently healthy Benin population. METHODS: One thousand four hundred and eighty-three men and women, apparently in good health after medical screening, were tested for hemoglobin abnormalities by hemoglobin electrophoresis and the Emmel test. Subjects who were found to have homozygous or double heterozygous hemoglobin abnormalities, were re-sampled and a confirmation hemogram and hemoglobin electrophoresis test by capillary electrophoresis was performed. RESULTS: Our study population was predominantly male (97.7%) with an average age of 21.3 years. 1390 subjects reported that they did not know their hemoglobin electrophoresis status. Hemoglobin electrophoresis profiles found were as follows: 1077 (72.6%) AA (normal), 238 (16.1%) AS, 161 (10.9%) AC, 3 (0.2%) SC, 4 (0.2%) CC and 0 (0%) SS. The 406 subjects with abnormal hemoglobin had balanced somatic growth, with general physical examination results showing no abnormalities. In the seven subjects with major sickle cell syndrome or hemoglobinosis (SC and CC), their values of various hemogram parameters were normal apart from the discreet presence of microcytic anemia. CONCLUSION: Our study highlights the need for increased routine testing of hemoglobin abnormalities and newborn screening for sickle cell disease in order to enhance early disease detection, prevention and comprehensive care.