Emmanuela E Ambrose, Benson R Kidenya, Luke R Smart, Alphaxard Manjurano
{"title":"坦桑尼亚西北部α +地中海贫血：新生儿筛查的分子和血液学见解。","authors":"Emmanuela E Ambrose, Benson R Kidenya, Luke R Smart, Alphaxard Manjurano","doi":"10.2147/JBM.S514273","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to determine the prevalence of alpha+ thalassemia and its hematological indices in a newborn population in Mwanza city, North-western Tanzania.</p><p><strong>Patients and methods: </strong>A cross-sectional study screened 803 newborns for alpha+ thalassemia that extracted DNA from dried blood spots using the Qiagen Mini Kit then analysed by multiplex PCR. Demographic data, anemia-related clinical information, and CBC parameters were collected at birth. Prevalence was determined by the proportion of newborns with the alpha+ thalassemia deletion. Fisher's Exact test assessed differences in demographic and clinical variables, while Student's t-tests and ANOVA evaluated hematological parameters. A P-value < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>Alpha thalassemia was detected in 49.6% (398/803) of neonates, with 38.6% heterozygous and 11.0% homozygous deletions. Significant differences in erythrocyte indices were observed across groups. Hemoglobin (Hb) levels were lower in heterozygous (_α/αα) and homozygous (_α/_α) newborns (16.42±3.62 g/dl and 16.04±3.37 g/dl, respectively) compared to the αα/αα group (17.03±3.35 g/dl, p < 0.05). Mean Corpuscular Volume (MCV) was reduced in heterozygous (_α/αα) and homozygous (_α/_α) groups (99.23±9.12 μm³ and 94.75±9.88 μm³, respectively) compared to αα/αα (102.41±9.56 μm³, p < 0.0001). Mean Corpuscular Hemoglobin (MCH) followed a similar pattern, being lowest in the homozygous group (p ≤ 0.0001). Red Cell Distribution Width (RDW) was higher in homozygous (_α/_α) newborns (10.03±1.22) compared to heterozygous (_α/αα) (9.57±0.79, p < 0.001). Leucocyte counts were significantly higher in heterozygous (_α/αα) newborns (13.91±12.14) compared to homozygous (_α/_α) (12.60±7.91) and αα/αα groups (11.26±9.76, p = 0.001).</p><p><strong>Conclusion: </strong>Alpha+ thalassemia is highly prevalent in North-western Tanzania and significantly affects blood indices. Neonatal screening is an effective tool for identifying affected children, especially in settings with high prevalence of a trait and low awareness of genetic inheritance.</p>","PeriodicalId":15166,"journal":{"name":"Journal of Blood Medicine","volume":"16 ","pages":"241-250"},"PeriodicalIF":2.1000,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087605/pdf/","citationCount":"0","resultStr":"{\"title\":\"Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.\",\"authors\":\"Emmanuela E Ambrose, Benson R Kidenya, Luke R Smart, Alphaxard Manjurano\",\"doi\":\"10.2147/JBM.S514273\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>This study aimed to determine the prevalence of alpha+ thalassemia and its hematological indices in a newborn population in Mwanza city, North-western Tanzania.</p><p><strong>Patients and methods: </strong>A cross-sectional study screened 803 newborns for alpha+ thalassemia that extracted DNA from dried blood spots using the Qiagen Mini Kit then analysed by multiplex PCR. Demographic data, anemia-related clinical information, and CBC parameters were collected at birth. Prevalence was determined by the proportion of newborns with the alpha+ thalassemia deletion. Fisher's Exact test assessed differences in demographic and clinical variables, while Student's t-tests and ANOVA evaluated hematological parameters. A P-value < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>Alpha thalassemia was detected in 49.6% (398/803) of neonates, with 38.6% heterozygous and 11.0% homozygous deletions. Significant differences in erythrocyte indices were observed across groups. Hemoglobin (Hb) levels were lower in heterozygous (_α/αα) and homozygous (_α/_α) newborns (16.42±3.62 g/dl and 16.04±3.37 g/dl, respectively) compared to the αα/αα group (17.03±3.35 g/dl, p < 0.05). Mean Corpuscular Volume (MCV) was reduced in heterozygous (_α/αα) and homozygous (_α/_α) groups (99.23±9.12 μm³ and 94.75±9.88 μm³, respectively) compared to αα/αα (102.41±9.56 μm³, p < 0.0001). Mean Corpuscular Hemoglobin (MCH) followed a similar pattern, being lowest in the homozygous group (p ≤ 0.0001). Red Cell Distribution Width (RDW) was higher in homozygous (_α/_α) newborns (10.03±1.22) compared to heterozygous (_α/αα) (9.57±0.79, p < 0.001). Leucocyte counts were significantly higher in heterozygous (_α/αα) newborns (13.91±12.14) compared to homozygous (_α/_α) (12.60±7.91) and αα/αα groups (11.26±9.76, p = 0.001).</p><p><strong>Conclusion: </strong>Alpha+ thalassemia is highly prevalent in North-western Tanzania and significantly affects blood indices. Neonatal screening is an effective tool for identifying affected children, especially in settings with high prevalence of a trait and low awareness of genetic inheritance.</p>\",\"PeriodicalId\":15166,\"journal\":{\"name\":\"Journal of Blood Medicine\",\"volume\":\"16 \",\"pages\":\"241-250\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-05-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087605/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Blood Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/JBM.S514273\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Blood Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/JBM.S514273","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.
Purpose: This study aimed to determine the prevalence of alpha+ thalassemia and its hematological indices in a newborn population in Mwanza city, North-western Tanzania.
Patients and methods: A cross-sectional study screened 803 newborns for alpha+ thalassemia that extracted DNA from dried blood spots using the Qiagen Mini Kit then analysed by multiplex PCR. Demographic data, anemia-related clinical information, and CBC parameters were collected at birth. Prevalence was determined by the proportion of newborns with the alpha+ thalassemia deletion. Fisher's Exact test assessed differences in demographic and clinical variables, while Student's t-tests and ANOVA evaluated hematological parameters. A P-value < 0.05 was considered statistically significant.
Results: Alpha thalassemia was detected in 49.6% (398/803) of neonates, with 38.6% heterozygous and 11.0% homozygous deletions. Significant differences in erythrocyte indices were observed across groups. Hemoglobin (Hb) levels were lower in heterozygous (_α/αα) and homozygous (_α/_α) newborns (16.42±3.62 g/dl and 16.04±3.37 g/dl, respectively) compared to the αα/αα group (17.03±3.35 g/dl, p < 0.05). Mean Corpuscular Volume (MCV) was reduced in heterozygous (_α/αα) and homozygous (_α/_α) groups (99.23±9.12 μm³ and 94.75±9.88 μm³, respectively) compared to αα/αα (102.41±9.56 μm³, p < 0.0001). Mean Corpuscular Hemoglobin (MCH) followed a similar pattern, being lowest in the homozygous group (p ≤ 0.0001). Red Cell Distribution Width (RDW) was higher in homozygous (_α/_α) newborns (10.03±1.22) compared to heterozygous (_α/αα) (9.57±0.79, p < 0.001). Leucocyte counts were significantly higher in heterozygous (_α/αα) newborns (13.91±12.14) compared to homozygous (_α/_α) (12.60±7.91) and αα/αα groups (11.26±9.76, p = 0.001).
Conclusion: Alpha+ thalassemia is highly prevalent in North-western Tanzania and significantly affects blood indices. Neonatal screening is an effective tool for identifying affected children, especially in settings with high prevalence of a trait and low awareness of genetic inheritance.
期刊介绍：
The Journal of Blood Medicine is an international, peer-reviewed, open access, online journal publishing laboratory, experimental and clinical aspects of all topics pertaining to blood based medicine including but not limited to: Transfusion Medicine (blood components, stem cell transplantation, apheresis, gene based therapeutics), Blood collection, Donor issues, Transmittable diseases, and Blood banking logistics, Immunohematology, Artificial and alternative blood based therapeutics, Hematology including disorders/pathology related to leukocytes/immunology, red cells, platelets and hemostasis, Biotechnology/nanotechnology of blood related medicine, Legal aspects of blood medicine, Historical perspectives. Original research, short reports, reviews, case reports and commentaries are invited.
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