Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency and the 376A ⟶ G, 202G ⟶ A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine how the SNPs affect haematological profile in HIV. A total of 200 HIV-positive Ghanaians were recruited. Venous blood samples were obtained and complete blood count, and G6PD screening and genotyping for the 376A ⟶ G, 202G ⟶ A SNPs were performed. Out of the 200 participants, 13.0% (26/200) were G6PD-deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A ⟶ G only (enzyme activity (EA): 1.19 U/g Hb), 202G ⟶A only (EA: 1.41 U/g Hb), and G202/A376 SNPs (EA: 1.14 U/g Hb), respectively. Having the 376A ⟶ G mutation was associated not only with lower red blood cell (RBC) count (3.38 × 106/µL (3.16–3.46) vs 3.95 × 106/µL (3.53–4.41), p = 0.010) but also with higher mean cell volume (MCV) (102.90 (99.40–113.0) vs 91.10 fL (84.65–98.98), p = 0.041) and mean cell haemoglobin (MCH) (33.70 pg (32.70–38.50) vs 30.75 pg (28.50–33.35), p = 0.038), whereas possessing the 202G ⟶ A mutation was associated with higher MCV only (98.90 fL (90.95–102.35) vs 91.10 fL (84.65–98.98), p = 0.041) compared to G6PD nondeficient participants. The prevalence of G6PD deficiency among HIV patients in Kumasi, Ghana, is 13.0% prevalence, comprising 1.5% and 11.5% partial and full enzyme defect, respectively, based on the methemoglobin reductase technique among HIV patients in Ghana. Among G6PD-deficient HIV patients, the prevalence of G202/A376 SNPs is 19.2%. The 376A ⟶ G mutation is associated not only with lower RBC count but also with higher MCV and MCH, whereas the 202G ⟶ A mutation is associated with higher MCV compared to the normal G6PD population.

Daily Functioning and Quality of Life in Patients with Sjögren–Larsson Syndrome

Aim Sjögren–Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and photophobia. Knowledge about the meaning of having SLS in daily life is lacking. Methods Sixteen parents or caregivers of patients with SLS were asked to fill out online questionnaires about daily functioning, quality of life, feeding and swallowing problems, skin treatment, female hormonal status, and greatest problems. Results Questionnaires were filled out by parents or caregivers of six children and 10 adult patients, age range 11 to 58 years. The median quality of life score was 73 (range: 26–100). Most often reported problems were itchy skin, reduced mobility, and dependency. Feeding and swallowing problems were reported in 75% of the patients. Mood problems were rarely mentioned. Discussion Despite the large disruptions of daily functioning, patients with SLS are according to their parents generally content with their quality of life and participation. There was a broad range in reported problems. We found it very useful to systematically ask parents about their children's feelings and needs, to better understand the meaning of living with a complex disorder like SLS.

Glucose-6-phosphate Dehydrogenase Deficiency: A Case Report

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzyme disorder and more than 200 million people have a deficiency in this enzyme. G6PD deficiency is an X-linked enzyme defect, and one of its main signs is the presence of hemolytic anemia. It is a worldwide important cause of neonatal jaundice and causes life threatening hemolytic crisis in childhood. At later ages, certain drugs such as anti-malarial drugs and fava beans cause hemolysis among G6PD deficiency patients. The frequency and severity is influenced by genetic and cultural factors. It is common in Mediterranean, African and some East Asian populations but rare in Bangladeshi peoples. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.Faridpur Med. Coll. J. Jan 2017;12(1): 47-49

Plasma homocysteine levels in patients with liver cirrhosis

Background/Aim. Homocysteine (2-amino-4-mercaptobutyric acid) is an amino acid that may be found in small quantities in all cells, and is quantitatively the major methionine metabolite. The most prevalent form is protein-bound homocysteine (about 80%), mostly to albumins. If catabolism of homocysteine is impaired either due to enzyme defect or deficiency of required intracellular cofactors, homocysteine accumulates in cells and reaches the circulation. The aim of our study was to determine homocysteine values and factors affecting homocysteine metabolism in patients with liver cirrhosis. Methods. The prospective study included 35 patients with liver cirrhosis and 30 age and sex matched healthy controls. All the examinations were based on: medical history, physical examination, laboratory tests including serum homocysteine levels and liver biopsy. The degree of liver failure was assessed according to the Child-Pugh classification. Results. The mean plasma homocysteine levels were much higher in the patients with liver cirrhosis than in the healthy controls (t-test, p < 0.001). There was no significant difference between the plasma homocysteine concentration and etiology of liver cirrhosis (ANOVA, p > 0.05). Correlation analysis showed a positive correlation between the homocysteine and creatinine concentrations and between the serum albumin and homocysteine values, (Pearson's correlation, p < 0.01, and p < 0.05 respectively). Conclusion. In liver cirrhosis, the genesis of homocysteinemia is multifactorial, influenced significantly by impaired catabolic liver function, renal failure and hypoalbuminemia.

21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

CONONGENITAL ADRENAL hyperplasia (CAH) is an inborn error of metabolism that can produce life-threatening disease in the first one to three weeks of life, unless properly diagnosed and managed. This autosomal recessive disease results in insufficient biosynthesis of cortisol due to an enzyme defect in the adrenal gland. CAH due to 21-hydroxylase (21-OH) deficiency is found in 1/11,000–1/15,000 people in the general population, with a prevalence as high as 1/750 people in some populations such as the Yupik Eskimos in Alaska and the people of La Réunion in France.1 Males and females are equally affected by this disease due to the autosomal recessive pattern of inheritance.