acid-phosphatase and Hemophilia-A

Topics: Acid Phosphatase; Acute Disease; Adult; Analgesics; Anti-Inflammatory Agents; Blood Coagulation Factors; Cathepsins; Chronic Disease; Cryoglobulins; Factor IX; Factor VIII; Freeze Drying; Hemarthrosis; Hemophilia A; Home Nursing; Humans; Joint Diseases; Male; Muscles; Radiography; Synovial Fluid; Synovial Membrane

The erythrocyte enzyme-systems acid phosphatase, phosphoglucomutase, glutamate pyruvate transaminase, adenosine desaminase, adenylate kinase, glyoxase, glucose-6-phosphate dehydrogenase and esterase-D-isoenzyme phenotypes were studied for their percentile distribution and were compared with their incidence in the diseases with X-linked recessive heredity, Duchenne muscular dystrophy (DMD) and haemophilia-A, in hemizygous male children and heterozygous mothers. Considering the frequency distribution of the above mentioned isoenzyme phenotypes of the enzyme-systems in DMD, the phenotypes proved to be homogeneous, only the X transmitted 6-phosphogluconate dehydrogenase (6-PGD) isoenzyme types were found to be genetic markers in DMD hemizygotes and heterozygotes. In these genotypes the 6-PGD A phenotype showed a decrease while the phenotypes 6-PGD AB and B were significantly increased. The adenylate kinase (AK) 2-1 isoenzyme phenotype was increased to 25% against the population frequency of 6.34%, while the AK 1-1 phenotype occurred in 75% against its population frequency of 93.59%, showing a significantly decreasing tendency in haemophilia-A hemizygotes and heterozygotes.

Topics: Acid Phosphatase; Adenosine Deaminase; Adenylate Kinase; Alanine Transaminase; Carboxylesterase; Carboxylic Ester Hydrolases; Enzymes; Erythrocytes; Female; Gene Frequency; Genes, Recessive; Genetic Linkage; Glucosephosphate Dehydrogenase; Hemophilia A; Heterozygote; Humans; Isoenzymes; Lactoylglutathione Lyase; Male; Muscular Dystrophies; Phenotype; Phosphoglucomutase; X Chromosome