The Alpha-Globin StripAssay proved to be a fast, easy-to-perform and reliable screening method to identify >90% of alpha-globin mutations in endemic areas worldwide.
Apparently healthy children living in areas where rickets is prevalent have risk factors for rickets and a small proportion will have evidence of biochemical rickets.
β-thalassemia is a group of heterogeneous recessive
disorders common in many parts of the world. Al-Qatif and Al-Hassa
oases in the Eastern Province of Saudi Arabia are regions known
for high frequency of these disorders. Using two molecular
methods, based on multiplexing-amplification refractory system and
reverse hybridization principles, the spectrum of β-thalassemia in the region was studied. Sixty-nine subjects with
known β-thalassemia disease and volunteers with high
hemoglobin A2(HbA2) and low mean corpuscular
volume (MCV) were included in this study. Ten mutations were
detected in 91% of the subjects under study. Six of these
mutations had previously been observed while the other four
mutations are reported here for the first time. In addition, four
of the mutations accounted for 76.8% of the subjects studied.
IVSII-1 (G > A), IVSI-5 (G > A), and codon 39 (C > T)
mutations were found to be the most frequent. However, the
frequencies of different mutations reported here are slightly
different from those reported earlier. A number of these mutations
were also found in the neighboring countries, which can be
explained in terms of gene flow.
The level of activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was determined in 154 unrelated Saudi males and females with G6PD deficiency who were residing in the Eastern Province of Saudi Arabia. DNA was extracted from blood samples and analyzed for known G6PD mutations by polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques. Two different polymorphic mutations were identified which accounted for 90% of the samples analyzed. Of 114 G6PD-deficient males, 96 had G6PD Mediterranean, nine had African deficient variant G6PD A- and in nine the mutation has not been identified. Of the 40 G6PD-deficient females, 34 were homozygous for the G6PD Mediterranean mutation and six were genetic compound, G6PD Mediterranean/G6PD A-. The data indicate that the G6PD Mediterranean mutation is the most common (84%) in the Eastern Province, followed by G6PD A- (5.8%). Seventy one subjects who suffered from favism were found to carry the Mediterranean mutation.
Summary
Induced pluripotent stem cells (iPSCs) are an invaluable resource for the study of human disease. However, there are no standardized methods for differentiation into hematopoietic cells, and there is a lack of robust, direct comparisons of different methodologies. In the current study we improved a feeder-free, serum-free method for generation of hematopoietic cells from iPSCs, and directly compared this with three other commonly used strategies with respect to efficiency, repeatability, hands-on time, and cost. We also investigated their capability and sensitivity to model genetic hematopoietic disorders in cells derived from Down syndrome and β-thalassemia patients. Of these methods, a multistep monolayer-based method incorporating aryl hydrocarbon receptor hyperactivation (“2D-multistep”) was the most efficient, generating significantly higher numbers of CD34
+
progenitor cells and functional hematopoietic progenitors, while being the most time- and cost-effective and most accurately recapitulating phenotypes of Down syndrome and β-thalassemia.
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