Hereditary Digital Abnormality

Abnormality of hemoglobin molecules in hereditary hemolytic anemias.

Hereditary abnormality of platelet aggregation attributable to nucleotide storage pool deficiency.

An abnormality of platelet aggregation has been detected in six family members with mild bleeding tendencies. In citrated platelet-rich plasma, primary aggregation induced by ADP or epinephrine and agglutination in response to ristocetin were present but second wave aggregation and aggregation in response to collagen suspension were absent or greatly reduced. Sodium arachidonate-induced aggrega...

Hereditary abnormality of luteinizing hormone resulting in discrepant serum concentrations determined by different assays.

We herein report familial defects in the molecular structure of luteinizing hormone (LH). The propositus was a 29-year-old women with repeated abortion in whom the serum LH concentration was extremely low determined by an immunoradiometric assay utilizing two monoclonal antibodies for the intact LH dimer and beta-subunit of LH (SPAC-S kit). Further studies on the serum LH concentration in this ...

Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality.

BACKGROUND Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variab...

Abnormal plasminogen. A hereditary molecular abnormality found in a patient with recurrent thrombosis.

A patient who suffered a recurring thrombosis over the last 15 yr has been investigated. The only abnormality found in this patient was a significantly depressed level of plasminogen activity in plasma. In spite of the depressed plasminogen activity, the patient was found to have a normal level of plasminogen antigen concentration. It was calculated that the activity per milligram of plasminoge...