Results 41 to 50 of about 36,735 (203)

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

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  

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Beta Thalassemia: An Overview of Epidemiology, Clinical Features, Diagnosis, and Management [PDF]

پزشکی بالینی ابن سینا
Background and Objective: Thalassemia is an inherited blood disorder with an autosomal recessive inheritance pattern caused by the reduced or absent production of globin chains.
Ghasem Miri-Aliabad
doaj  

Dukungan Keluarga Dalam Merawat Anak Dengan Thalassemia Beta Mayor

Citra Delima, 2019
ABSTRAK Pendahuluan: Thalassemia merupakan penyakit anemia hemolitik yang diturunkan secara genetik. Indonesia termasuk salah satu Negara yang memiliki penduduk pembawa gena thalassemia dengan prevalensi sebesar 3-8%. Anak thalassemia beta mayor harus
Rezka Nurvinanda, Sri Mulatsih, Sri Hartini, Intansari Nurjannah   +3 more
doaj   +1 more source

Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy—A Narrative Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Mirror syndrome is a rare maternal–fetal condition associated with fetal hydrops and a high risk of adverse maternal and fetal perinatal outcomes. Its diagnosis is challenging due to the lack of standardized diagnostic criteria and its clinical and biochemical overlap with preeclampsia.
Riccardo Tudisco, Pauline Latapie, Anita Romiti, Alexandra Benachi, Maelig Abgral, Alexandre J. Vivanti   +5 more
wiley   +1 more source

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

Allergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter, Ioana Agache, Beatriz Cabanillas, Roberto Berni Canani, Pasquale Comberiati, Holger Garn, Cristina Gomez‐Casado, Karin Hufnagl, Ekaterina Khaleva, Gregorio P. Milani, Daniel Munblit, Nikolaos Douladiris, Liam O'Mahony, Frank Redegeld, Carmen Riggioni, Peter K. Smith, Betty van Esch, Emilia Vassilopoulou, Carina Venter, Diego G. Peroni   +19 more
wiley   +1 more source

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

The Application of Clinical Genetics, 2017
Parth S Shah,1 Nidhi D Shah,2 Hari Shankar P Ray,3 Nikunj B Khatri,3 Ketan K Vaghasia,3 Rutvik J Raval,4 Sandip C Shah,3 Mandava V Rao5 1Department of Medicine, Lahey Hospital and Medical Center, Boston, MA, 2Department of Pediatrics, Nassau University ...
Shah PS, Shah ND, Ray HSP, Khatri NB, Vaghasia KK, Raval RJ, Shah SC, Rao MV   +7 more
doaj  

Pattern of red cell indices in beta thalassemia trait and E trait

Haematology Journal of Bangladesh
Background: Thalassemia is the most common single gene disorder that affects globin chain synthesis.  Hb electrophoresis is the gold standard for detection of beta thalassemia trait and E-trait, but it is costly and not available in upazila and district
Nahid Sultana
doaj   +1 more source

Prevalence of Minor β-thalassemia Based on RBC Indices among Final Suspected Individuals in Premarital Screening Program Referred to Genetic Laboratories [PDF]

International Journal of Hematology-Oncology and Stem Cell Research, 2010
"nAbstract "nIntroduction: The current study evaluated the value of red blood cell (RBC) indices and the corresponding cut- off points for β-thalassemia control programs in Iran.
Alireza Moafi, Sadeg Valian, Zahra Nikyar, Mehrdad Zeinalian, Maryam Momenzadeh, Soheila Rahgozar   +5 more
doaj