Newborn screening for hemoglobinopathies at Muhimbili National Hospital, Dar es Salaam – Tanzania
SS RwezaulaP M MagesaJosephine MgayaAugustine MassaweCharles R. NewtonTroy J. MarlowSharon E. CoxMonica V.E. GallivanBronwyn DavisBrett LoweDJ RobertsJulie Makani
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Background: Newborn screening (NBS) for hemoglobinopathies is important for the early detection and effective management of affected children. Objectives: To determine the frequency of occurrence, types of, and factors associated with abnormal haemoglobins in newborns at Muhimbili National Hospital (MNH), Dar es Salaam. Methods: A hospital-based, descriptive cross-sectional design was used to recruit newborns at Muhimbili National Hospital in 2009. Blood specimens were analyzed by High Performance Liquid Chromatography and alkaline Hb electrophoresis to determine the type and proportion of hemoglobin variants. Complete blood counts including red cell indices were done by automated hematology analyzer. Results: Out of 2,053 samples analyzed, the prevalence of hemoglobinopathies was 18.2% (n=374). The percentages of children with defined hemoglobinopathies included 12.6% (n=258) with sickle cell trait (Hb FAS); 0.9% (n=19) as sickle cell carrier or Hb S Beta + -thalassemia (Hb FSA); 0.54% (n=11) had SCA or Hb S Beta 0 -thalassemia (Hb FS); one Hb FA-D variant and 5.3% (n=109) with possibly α -thalassemia (Hb Bart’s). The frequency of occurrence of abnormal haemoglobins were highest among participants whose parental origin were Costal Regions, 35.6% (n=133) and Lake Zone, 10.2% (n=38). Participants from the Northern Region of Tanzania had the lowest frequency of occurrence, 6.7% (n=25) (X 2 = 37.7, p < 0.01). Having abnormal haemoglobins increased the likelihood of newborns being born at low gestational age (23.8%) by 1.5 fold as compared to newborns (16.3%) born without abnormal haemoglobins (X 2 =11.7, p=0.001). Conclusions: The frequency of occurrence of abnormal hemoglobin is high and fulfills the World Health Organization (WHO) criteria of a disorder of public health significance. Therefore, newborn screening programme is highly recommended in Tanzania. The ethnic origin of the parents and the gestational age were significantly associated with occurrence of abnormal haemoglobins. Keywords: Newborn screening, neonates , abnormal haemoglobins (Hemoglobinopathies), frequency of occurrence, High Performance Liquid ChromatographyKeywords:
Hemoglobin A2
Hemoglobinopathy
Dar es salaam
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Determining the frequencies of hemoglobin disorders in referral cases to the hospital's laboratory for designing the best program for prevention, early diagnosis and treatment of these disorders.Hemoglobin electrophoresis and CBC were performed on 6033 cases referred to Imam Reza hospital, Mashhad, Iran from 2004 to 2009.Normal and abnormal electrophoretic patterns were identified in 77.55% (4679 cases) and 22.44% (1354 cases), respectively.The most common hemoglobin disorders, in order of frequency, were ß-thalassemia minor (19.44%),Hb D (1.63%), Hb S (0.38%), thalassemia intermedia to major (0.24%), thalassemia major (0.23%), δß 0 -thalassemia (heterozygous) (0.18%), hereditary persistence of fetal hemoglobin (heterozygous) (0.1%), Hb H (0.1%), Hb C,E or O (0.07%), HbLepor (heterozygous) (0.03%), Hb D/ß + -thalassemia (0.02%) and Hb S/ß + -thalassemia (0.02%).Based on our study hemoglobin disorders are a common problem in this region as the abnormal results in electrophoresis were observed in the 22.44% of individuals.These results show the importance of a premarital screening program for hemoglobin disorders in this geographic area.
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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.
Hemoglobinopathy
Antenatal screening
Venous blood
Beta thalassemia
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This cross-sectional descriptive study was conducted to investigate the preva- lence of thalassemia and hemoglobinopathies in 600 pregnant women who attended the antenatal care clinic (ANC) at Nopparat Rajathanee Hospital from October 2009 to March 2010. All subjects had blood taken for thalassemia screening by automatic capillary electrophoresis system (Sebia) for typing and quantifying hemoglobin (Hb typing). Most pregnant women were in reproductive ages and 25% were foreigners, Myanmar were the biggest group, 47.3% of cases and had anemia, 85.2% were positive for osmotic fragility screening. Overall prevalence in pregnant women were classified as follows: Hb E trait 39.3%, Hb E trait (with or without α -thalassemia) 4.7%, Homozygous Hb E 10.3%, β -thalassemia trait 4.2%, Hb Cs trait 3 . 3%, Hb E-Cs trait 3.0%. Additionally, the authors also found Hb H disease 1.3%, β -thalassemia/ Hb E disease 1.0% and EABart’s disease 0.2%. The rest, 143 samples (23.8%) were typed as A2A with the percentage of Hb A2 2.5-3.5%, these samples might include normal or α -thalassemia trait or iron deficiency anemia. As differentiated by the race, Myanmar was highly prevalence of β -thalassemia trait (14.4%), Thai Laos and Cambodia were highly prevalence of Hb E trait (58%, 69% and 75%, respe c - tively). The prevalence of thalassemia and carriers in pregnant women at Nopparat Rajathanee Hospital was high, indicating the necessity of continuing thalassemia screening program aimed at prevention and control of such disease in this area.
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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 (β4) was detected. We observed that the overall incidence of α-thalassemia (α-thal) was 48.5% [based on the presence of Hb Bart's (γ4)] and the β-globin-related abnormalities accounted for 9.5% of the samples (4.8% sickle cell trait, 2.6% β-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 β-thal). This is also the first large study to establish reference ranges of cord red blood cell (RBC) indices for Omani neonates.
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To provide accurate prevalence information of thalassemia in northeast Thailand, authors performed thalassemia screening in newborns after 20 years implementation of a prevention and control program.Study was done on 350 cord blood specimens collected consecutively at Maternal and Child Hospital, Regional Health Promotion Center 7, Khon Kaen, Thailand. All kinds of α- and β-thalassemias were identified using combined hemoglobin (Hb) and DNA analyses.Among 350 newborns examined, subjects with thalassemia genes were identified in 184 (52.6%) cases with as many as 22 different genotypes. The most prevalent one was Hb E (39.1%). The incidence of 3.1% α0-thalassemia, 25.9% α+-thalassemia, 5.4% Hb Constant Spring and 1.4% of Hb Paksé were encountered. Heterozygous β-thalassemia was found in 2 cases (0.6%). Hb capillary electrophoresis could demonstrate Hb E in all cases with Hb E and detected different levels of Hb Bart's for different α-thalassemia genotypes but not in all cases with α-thalassemia. No newborn with severe thalassemia diseases was encountered.This study reveals that α-thalassemia, β-thalassemia, and Hb E carriers as well as complex thalassemia syndromes are still prevalence and indicates a need for continuing a prevention and control program in the region.
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Background: Hemoglobinopathies are the most common inherited red cell disorders worldwide. Identification of these disorders is immensely important epidemiologically and for improved management protocols. Aim and Objectives: Our aim was to determine the prevalence of hemoglobinopathies in patients with microcytic hypochromic anemia and to assess the suitability of using high performance liquid chromatography (HPLC) routinely for screening antenatal cases and patients with anemia. Materials and Methods: A total of 4335 cases received from Mar 2007 to Nov 2011 were studied for various hemoglobinopathies and variants on BIO RAD 'VARIANT' analyzer. Results: Of the 4335 cases studied, 2119 were antenatal cases, 1710 patients with other disorders and 506 family studies. Of these, 688 cases displayed abnormal hemoglobin fractions on HPLC of which 140 were antenatal women. There were 455 cases of β thalassemia trait, 24 β thalassemia major, 20 thalassemia inter-media, 54 sickle cell trait, fivesickle cell disease, 21 double heterozygous β thalassemia-sickle cell trait, nineand 4 Hb D- Punjab heterozygous and homozygous respectively, three Hb D β Thalassemia trait, 20 and 37 Hb E homozygous and heterozygous respectively, three Hb E β Thalassemia trait and four cases of Hb Q India. Twenty nine adults had isolated HbF elevation. Conclusion: Our study found a high prevalence (15.8%) of hemoglobinopathies amongst microcytic hypochromic anemia and antenatal cases. An accurate diagnosis helps in preventing unnecessary iron loading. Screening all antenatal cases with anemia helps in timely antenatal counseling, thus preventing the psychological trauma of bearing a transfusion dependent child for life.
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Sickle cell trait
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Objective: To see the pattern of hemoglobinopathies in the blood samples, received for Hb electrophoresis.Introduction: Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule.Approximately 250 million people (4.5% of the world population) carry potentially pathological haemoglobinopathy gene.Some of the hemoglobinopathies are due to the production of abnormal hemoglobin proteins.Other types of hemoglobinopathies result from reduced production of hemoglobin proteins that otherwise are normal.We attempted to see the pattern of various hemoglobinopahies in the blood samples of the patients referred to our center for Hb electrophoresis.
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Aim: The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil. Methods: Samples of dried blood spots collected by heel prick in neonates were evaluated by isoeletric focusing and/or high-performance liquid chromatography techniques. All variants were characterized at the molecular level. Results: A total of 437,787 samples were evaluated. Among these, 6391 showed an abnormal hemoglobin pattern. These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/β thalassemia, 1 Hb SD), 1 neonate who was homozygous for β thalassemia, 6272 (1.4%) newborns who were heterozygous for Hb S, C, or D, and 71 (0.02%) neonates who were carriers for rare hemoglobin variants. Most of these rare variants were identified for the first time in Brazil. Conclusions: Comparing these results with those obtained in other Brazilian regions, we observe a highly heterogeneous distribution. This knowledge is useful in healthcare planning and allocation of resources, as well as identifying at-risk couples, which will assist with disease prevention.
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Despite the extensive data on haemoglobinopathies and their widespread geographic distribution, the number of prospective Caribbean studies which document the prevalence of haemoglobinopathies from birth are few. The purpose of this cohort study was to document the prevalence of haemoglobinopathies in newborn infants in Barbados. One thousand successively collected cord bloods of newborn infants were screened for haemoglobinopathies using the Paragon acid electrophoresis technique. Seventeen infants were retested at 1 year of age to confirm the diagnosis. Three mothers could not be located so their infants' diagnoses could not be confirmed. From the 997 blood samples with conclusive results, a haemoglobinopathy was found in 72 (7%) samples. Laboratory analysis revealed: 925 patients (93%) with Hb AA, 41 (4%) with Hb AS, 27 (2.7%) with Hb AC, 2 (0.2%) with Hb SS, 1 (0.1%) with Hb CC and 1 (0.1%) with Hb SC. The prevalence of the sickle gene and number of cases of Sickle Cell anaemia in the Barbadian population is less than has been reported from other regional territories.
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Hemoglobinopathy
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Abstract Background Worldwide, hemoglobinopathies affect millions of children. Identification of hemoglobin disorders in most sub‐Saharan African countries is delayed until clinical signs of the disease are present. Limited studies have been conducted to understand their prevalence and clinical presentation among newborns in resource‐limited settings. Methodology This was a prospective cohort study. Newborns (aged 0–7 days) at two hospitals in Northwestern Tanzania were enrolled and followed prospectively for 6 months. Clinical and laboratory information were collected at baseline. Participants were screened for hemoglobinopathies using high‐performance liquid chromatography. Clinical and laboratory follow‐up was performed at 3 and 6 months for those with hemoglobinopathies as well as a comparison group of participants without hemoglobinopathies. Results A total of 919 newborns were enrolled. Among these, 1.4% (13/919) had sickle cell anemia or Hb S/β 0 ‐thalassemia (Hb FS), and 19.7% (181/919) had sickle cell trait or Hb S/β + thalassemia (Hb FAS). Furthermore, 0.2% (two of 919) had β + ‐thalassemia. Red cell indices compared between Hb FS, Hb FAS, and Hb FA were similar at baseline, but hemoglobin was lower and red cell distribution width was higher in children with Hb FS at 3‐ and 6‐month follow‐up. Febrile episodes were more common for children with Hb FS at 3‐ and 6‐month follow‐up. Conclusion The prevalence of sickle cell disease among neonates born in Northwestern Tanzania is one of the highest in the world. Newborn screening is needed early in life to identify neonates with hemoglobinopathies so that clinical management may commence and morbidity and mortality related to hemoglobinopathies be reduced.
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Hemoglobinopathy
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