Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the case of a young Algerian, aged 32, suffering from mild icterus, accompanied by a marked splenomegaly. The blood count revealed a moderate degree of anaemia with reticulocytosis, pronounced anisocytosis, micro-spherocytes, bulls eye cells, folded cells, hypochrome cells, a marked polychromasia and a mild erythroblastosis. Present also were hyperbilirubinaemia, raised plasma haemoglobin, zero haptoglobin, a reduced osmotic fragility and half-life of erythrocytes. Haemoglobin electrophoresis showed 17.25% haemoglobin F, 62.8% haemoglobin C+A2 and no haemoglobin A. The genetic study indicated that the patient was a double heterozygote C/beta thalassaemia, his mother and his son both suffering from this disease. This thalassemic gene of type beta (0) totally inhibited the synthesis of haemoglobin A, the defect found in our patient.
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PMID:[Haemoglobinosis C/beta-thalassemia double heterozygosity in an Algerian patient with total suppression of haemoglobin A synthesis (author's transl)]. 67 Sep 35

Early amnion rupture is a sporadic event that results in mechanical teratogenesis due to amniotic-band disruption and/or compression. It may cause abortion or stillbirth, craniofacial clefts, and cerebral, body wall and limb/skeletal defects. Prolonged and premature rupture of membranes and oligohydramnios result in the dry-lung syndrome and pulmonary hypoplasia. The risk of chorioamnionitis is also increased, with serious consequences to the fetus and neonate. Placental lesions are associated with fetal growth retardation, preterm birth, fetal malformations and other neonatal disorders (congenital infections, erythroblastosis, alpha thalassaemia). In particular, the impact of extremely preterm births on perinatal mortality rates and health costs is substantial. The 1-year survival rate of singleton infants born at the Monash Medical Centre was 10% at a gestation period of 23 weeks, 37% at 24 weeks, 42% at 25 weeks, 61% at 26 weeks and 78% at 27 weeks (11% at birthweights of 500-599 g, 30% at 600-699 g, 55% at 700-799 g and 71% at 800-899 g). Proven measures to minimize the neonatal consequences of extremely preterm delivery include in utero transfer of at-risk fetuses to a perinatal centre and antepartum corticosteroids. Research into the pathophysiological basis of placental and membrane dysfunction may help reduce the prematurity rate.
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PMID:Neonatal consequences of placental and membrane dysfunction. 195 32

Eight patients who were carriers of beta-thalassemia induced by the cd121 (G-->T) mutation are described in four nonrelated Dutch families. This mutant, which is considered rare and inherited in a dominant manner, is expressed in a different way among each of the four families and even among carriers of the same family. The symptoms vary from an hemolytic anemia of intermediate gravity with hepatosplenomegaly, inclusion bodies and erythroblastosis, to a mild anemia with minor hematological abnormalities. We report the analytical procedures used for the detection of the mutant, the hematological and clinical data of the four families and discuss the variable physiopathology of this molecular defect. We also compare the variation in fetal hemoglobin expression in relation to the haplotypes of the beta-gene cluster and to the different hematological conditions. The presence of this rare mutant in four nonrelated Dutch families could derive from a single mutation or from multiple events. The existence of the four mutations in three different haplotypes suggests the occurrence of at least two independent events. The presence of five abnormal hemoglobins and the beta-thalassemia defect on different haplotypes at cd121 also suggests a relatively increased rate of mutations at this particular site.
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PMID:Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation. 987 60