Karyomapping in Preimplantation Genetic Testing of Patients with Beta-thalassemia and Sickle Cell Anemia

Side effects of hydroxyurea in patients with Thalassemia major and thalassemia intermedia and sickle cell anemia

Background Sickle hemoglobin is the most common abnormal hemoglobin in the United States. Hemoglobin S arises as a result of a single amino acid substitution (glutamic acid to valin at position 6 of the β-globine chain). The presence of fetal hemoglobin (HbF) plays a relatively protective role since a significant amount of HbF interferes with HbS polymerization, the pathogenesis mechanism of ...

Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia.

We developed single-cell polymerase chain reaction (PCR) assays for preimplantation genetic diagnosis (PGD) in couples carrying mutations in the beta-globin gene. With PGD the genetic status of an embryo obtained after intracytoplasmic sperm injection (ICSI) is determined by PCR analysis in single blastomeres, allowing only healthy embryos to be transferred to the uterus. We carried out nine PG...

The Effect of L-Glutamine on Pain Crisis Reduction in Patients with Sickle Cell Anemia and Sickle β°-Thalassemia

Background: A low level of L-glutamine, a precursor of nicotinamide adenine dinucleotide (NAD) in red blood cells (RBCs), is identified as an underlying mechanism for the potential decrement of the NAD redox and the incidence of pain crisis in sickle cell anemia (SCA). The aim of this study is to assess the impact of oral L-glutamine therapy on pain crisis reduction in patients with SCA and sic...

Side Effects of Hydroxyurea in Patients with Sickle Cell Anemia

Background: Hemoglobin S arises is the result of a point mutation (A-T) in the sixth codon on the -globin gene on chromosome 11 causing sickle cell anemia. The presence of fetal hemoglobin in infancy plays a relatively protective role for vaso-occlusive symptoms that are the major contributor for the morbidity and mortality among patients with sickle cell anemia. hydroxyurea, an s-phase-specif...

Karyomapping: Preimplantation genetic diagnosis