The Prevalence of β-Thalassemia and Other Hemoglobinopathies in Kuwaiti Premarital Screening Program: An 11-Year Experience.

This study aims to estimate the prevalence rates of β-thalassemia and Sickle cell disorders in the adult population screened ( = 275,819) as part of the Kuwaiti National Premarital Screening Program. All the individuals who applied for a marriage license during the years 2009 and 2020 were covered by the program. A network of four reception centers in the Ministry of Health facilities and one Premarital Diagnostic Laboratory (PDL) in Maternity Hospital were involved in performing all investigations for hemoglobinopathies.

Unique Polymorphisms at , and Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease.

Patients with sickle cell disease (SCD) in Kuwait have elevated HbF levels ranging from ~10-44%; however, the modulating factors are unclear. We investigated the association of single nucleotide polymorphisms (SNPs) at , and with HbF levels in 237 Kuwaiti SCD patients, divided into 3 subgroups according to their HbF levels. Illumina Ampliseq custom DNA panel was used for genotyping and confirmed by arrayed primer extension or Sanger sequencing.

Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.

Hemoglobin genotype and HBB haplotype are established genetic factors that modify the clinical phenotype in sickle cell disease (SCD). Current methods of establishing these two factors are cumbersome and/or prone to errors. The throughput capability of next generation sequencing (NGS) makes it ideal for simultaneous interrogation of the many genes of interest in SCD.

HemoTypeSC, a low-cost point-of-care testing device for sickle cell disease: Promises and challenges.

Background: Sickle cell disease (SCD) is a neglected burden of growing importance. >312,000 births are affected annually by sickle cell anaemia (SCA). Early interventions such as newborn screening, penicillin prophylaxis and hydroxyurea can substantially reduce the mortality and morbidity associated with SCD.