We report a 43-year-old Japanese woman with microcytic and hypochromic anemia, who had been erroneously diagnosed as having iron deficiency anemia 20 years previously at the time of her first labor, and treated with iron and blood transfusion. At the present visit to our clinic, she was found to have an increased HbA2 level and prolonged glycerol lysis time. Genetic analysis of the beta-globin gene revealed deletion of 3 bases at codons 127/128 (CAG/GCT-->CCT). A genetic study of the patient's family showed that two of her four children possessed the same mutation. The patient had mild anemia, her first son had very mild anemia, and her second daughter had moderate anemia with hemolysis. These affected family members were diagnosed as having dominant-phenotype beta-thalassemia.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Context: Anemia is a medical condition resulting from a reduction in the number of red blood cells below the reference range. It is a major public health problem, particularly among adolescents, as it can have negative effects on cognitive performance, growth and reproduction. This study aims to assess the determinants of anemia among adolescents in schools in the city of Douala.
View Article and Find Full Text PDFFirst Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation ( c.244delT) in a Chinese Family.
Hemoglobin
January 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated with Guangzhou Medical University, Guangzhou, Guangdong Province, China.
Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants.
View Article and Find Full Text PDFTherapeutic hypothermia in preterm infants under 36 weeks: Case series on outcomes and brain MRI findings.
Eur J Pediatr
January 2025
Neonatology Department. Hospital Sant Joan de Déu, Center for Maternal Fetal and Neonatal Medicine. Neonatal Brain Group, Universitat de Barcelona. Hospital Clínic, Universitat de Barcelona. BCNatal - Barcelona, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Purpose: Perinatal hypoxic-ischemic encephalopathy (HIE) is a significant cause of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term neonates, but its safety and efficacy in neonates < 36 weeks gestational age (GA) remains unclear. This case series aimed to evaluate the outcomes of preterm infants with HIE treated with TH.
View Article and Find Full Text PDF[Application Analysis of Screening for Thalassemia in the Population of Childbearing Age in Quanzhou].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.
Objective: To analyze the application value of MCV, MCH and HbA in screening for thalassemia in the population of childbearing age in Quanzhou area, and to determine the optimal screening cut-off value of relevant indicators in this area.
Methods: 2 725 couples of childbearing age were included in the study and underwent routine blood test, capillary hemoglobin electrophoresis, and α and β thalassemia gene test. Statistical methods were used to analyze the distribution of thalassemia genotypes, and compare the performance of MCV, MCH, and HbA in screening various types of thalassemia.
Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review.
Front Pediatr
December 2024
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A. Cao", University of Cagliari, Cagliari, Italy.
Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!