Results 41 to 50 of about 39,247 (186)

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Rare double heterozygosity for poly A(A>G) and CD17(A>T) of beta thalassemia intermedia in a Chinese family

Hematology Reports, 2019
Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia.
Jianhong Xie, Yuqiu Zhou, Qizhi Xiao, Ruoting Long, Lianxiang Li, Lei Li   +5 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Lack of awareness about thalassemia; a social factor in the propagation of beta thalassemia gene in Pakistan: A population study

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Background: Beta thalassemia is the most common genetic disorder in Pakistan. Thalassemia is a preventive disease a fact well demonstrated by countries such as Italy, Greece and Cyprus.
Muhammad Usman
doaj  

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

L-carnitine in beta thalassemia

Indian Pediatrics, 2009
This study was conducted to determine L-carnitine levels in regularly transfused and chelated beta thalassemia patients (n=40; mean age, 17.5+/-5.0 years). Ten age matched controls were also studied. The mean L-carnitine level in thalassemic patients was 23.71+/- 7.3 microM as compared to control 29.26+/-2.37 microM ...
Rashid, Merchant, Abhay, Jain, Amish, Udani, Vipla, Puri, Mallika, Kotian   +4 more
openaire   +2 more sources

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

Journal of Blood Medicine, 2018
Chanchai Traivaree,1 Chalinee Monsereenusorn,1 Piya Rujkijyanont,1 Warakorn Prasertsin,2 Boonchai Boonyawat3 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Department of ...
Traivaree C, Monsereenusorn C, Rujkijyanont P, Prasertsin W, Boonyawat B   +4 more
doaj  

Association Between Plasma Cystatin C Concentration and Urine Osmolality in Adults with Different Forms of Beta-Thalassemia: A Cross-Sectional Study in Vietnam

Thalassemia Reports
Objective: To determine plasma cystatin C concentrations, urine osmolality and their relationship with disease severity in beta-thalassemia patients. Methods: A cross-sectional study was conducted on 234 patients with beta-thalassemia, including equal ...
Loan Do Thi Thanh, Anh Nguyen Ngoc, Kien Nguyen Trung, Ha Nguyen Thi Thu, Dung Nguyen Huu, Thang Le Viet   +5 more
doaj   +1 more source

Beta thalassemia - a review

Journal of Pathology of Nepal, 2014
Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. About 1.5% of the global population (80 to 90 million people) are carriers of beta Thalassemia.
R Jha, S Jha
doaj   +1 more source

Non‐Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality

Prenatal Diagnosis, EarlyView.
ABSTRACT Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes.
Irene Leonidou, Leila Sallie, Morgan Jean Bell‐Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris   +7 more
wiley   +1 more source