Ambrose Emmanuela E, Kidenya Benson R, Smart Luke R, Manjurano Alphaxard
Department of Pediatrics and Child Health, Catholic University of Health and Allied Sciences, Mwanza, Tanzania.
Department of Pediatrics and Child Health, Bugando Medical Centre, Mwanza, Tanzania.
J Blood Med. 2025 May 15;16:241-250. doi: 10.2147/JBM.S514273. eCollection 2025.
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.
目的：本研究旨在确定坦桑尼亚西北部姆万扎市新生儿群体中α+地中海贫血的患病率及其血液学指标。 患者与方法：一项横断面研究对803名新生儿进行了α+地中海贫血筛查，使用Qiagen Mini试剂盒从干血斑中提取DNA，然后通过多重聚合酶链反应进行分析。出生时收集人口统计学数据、贫血相关临床信息和全血细胞计数参数。患病率通过α+地中海贫血缺失新生儿的比例来确定。Fisher精确检验评估人口统计学和临床变量的差异，而学生t检验和方差分析评估血液学参数。P值<0.05被认为具有统计学意义。 结果：在49.6%（398/803）的新生儿中检测到α地中海贫血，其中38.6%为杂合缺失，11.0%为纯合缺失。各亚组红细胞指标存在显著差异。与αα/αα组（17.03±3.35 g/dl）相比，杂合子（_α/αα）和纯合子（_α/_α）新生儿的血红蛋白（Hb）水平较低（分别为16.42±3.62 g/dl和16.04±3.37 g/dl，p<0.05）。与αα/αα组（102.41±9.56μm³）相比，杂合子（_α/αα）和纯合子（_α/_α）组的平均红细胞体积（MCV）降低（分别为99.23±9.12μm³和94.75±9.88μm³，p<0.0001）。平均红细胞血红蛋白（MCH）呈现类似模式，在纯合子组中最低（p≤0.0001）。纯合子（_α/_α）新生儿的红细胞分布宽度（RDW）高于杂合子（_α/αα）（10.03±1.22与9.57±0.79，p<0.001）。与纯合子（_α/_α）（12.60±7.91）和αα/αα组（11.26±9.76）相比，杂合子（_α/αα）新生儿的白细胞计数显著更高（13.91±12.14，p=0.001）。 结论：α+地中海贫血在坦桑尼亚西北部高度流行，并显著影响血液指标。新生儿筛查是识别受影响儿童的有效工具，尤其是在特征患病率高且对遗传遗传认识不足的地区。
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