Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amniocentesis and fetoscopy are two of several modalities used to offer information during the prenatal period of the status of the fetus. Amniocentesis is most frequently used and with continuing research is becoming an invaluable aid to prenatal diagnosis. With the recent studies of DNA characteristics of globin chains of cells obtained at amniocentesis, the need to obtain blood directly from fetal vessels to diagnose major hemoglobinopathies prenatally is rapidly diminishing. Open neural tube defects are diagnosable with alpha feto protein analysis. All chromosomal defects are accurately quantitated and more than 100 inborn errors of metabolism are predictable. Fetoscopy is a technique which has a limited utility. It should be confined to major centers where adequate midtrimester abortions are done in order to provide training for those who aspire to pursue this method. With fetal blood sampling the following conditions are detected: beta thalassemia major, Hemophilia A, sickle cell anemia, chronic granulomatous disease, galactosemia and Tay Sachs disease, all of which may be diagnosed directly. Alpha and beta thalassemia, Hemophilia B and homozygous Von Willenbrand's disease may be excluded. With fetal biopsy one can diagnose congenital bullous ichthyosiform erythroderma ichthyosis. During the last ten years the amount of information brought to our attention has also brought the expectation that the next decade will be the most fruitful period in our history in this discipline.
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PMID:Amniocentesis and fetoscopy. 714 20

In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking. Except for TG7, which remains poorly studied, all individual TG members have been correlated with disparate human diseases that arise from either TG function or lack of function. Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to defects in epidermal cornification in lamellar ichthyosis and acral peeling skin syndrome, respectively; loss of TG3 crosslinking in hair-cuticle formation leads to uncombable hair syndrome; the predicted loss of TG6 crosslinking leads to spinocerebellar ataxia-35; and loss of the structural erythrocyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5. The enzymatic activity of TG2 is involved in the exacerbation of celiac disease and in at least 1 case of hemoglobinopathy, characterized by shortened erythrocyte lifespan. TGs are also autoantigens in a number of immune diseases, resulting in the production of autoantibodies against FXIIIa in acquired FXIII deficiency, TG2 in celiac disease, TG3 in dermatitis herpetiformis, TG4 in autoimmume polyglandular syndrome type 1, and TG6 in gluten axonal neuropathy and gluten ataxia. Much still remains to be learned and confirmed with respect to disease mechanisms, particularly with respect to TG-related immune diseases, in which development of isozyme-specific inhibitors may be useful for treatment.-Lorand, L., Iismaa, S. E. Transglutaminase diseases: from biochemistry to the bedside.
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PMID:Transglutaminase diseases: from biochemistry to the bedside. 3081 25