Chediak-Higashi syndrome (CHS) is a rare, usually fatal, autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, progressive neurologic dysfunction and a bleeding diathesis. The hallmark of CHS is giant organelles and giant granules in many different cell types, most likely the result of defective trafficking of specific organellar and granular proteins necessary for the normal genesis, structure or function of these cytoplasmic components. The CHS1 gene has recently been identified and shown to be homologous to the beige locus of the mouse; however, there has been disagreement as to the length of the functional CHS1 mRNA and protein. Here we report homozygous CHS1 gene mutations in two of the original probands we used to map the gene to 1q42-q44. One of these, a frameshift at codon 3197, supports our assertion that the functional CHS protein is a predicted 3801 amino acid polypeptide encoded by a 13.5 kb mRNA.
Over a 10-year period, 15 glucose-6-phosphate dehydrogenase (G6PD)-deficient male newborns were admitted to Al-Jahra Hospital with acute haemolysis a few days after applying henna dye over the body, which is a unique Bedouin tribal practice to celebrate the arrival of the first-born boy. Laboratory investigations revealed significant anaemia, reticulocytosis and indirect hyperbilirubinaemia among the index newborns as compared with controls (p < 0.001). The mean (SD) haemoglobin concentration in index patients was 113.4 (13.4) g/l vs 171.2 (11.2) g/l in controls, reticulocytic count 13.8% (4.2%) vs 1.4% (0.74%), and indirect bilirubin 382.8 (58.7) mumol/l vs 63.7 (61.4) mumol/l. G6PD-deficient newborns with haemolysis linked to henna application had delayed age at presentation and a higher reticulocytic count and hyperbilirubinaemia compared with non-henna-induced haemolysis (p < 0.05). Percutaneous henna absorption is well recognized and clinical findings support the harmful effect of henna on G6PD-deficient red blood cells. A local health education programme has been established to prevent the use of henna dye in infancy.
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