Combined factor VII and factor VIII deficiency due to a casual association of heterozygosis for factor VII deficiency and hemophilia A. 1977

A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso

A patient with combined factor VII and factor VIII deficiency is discussed. The propositus is a 21-year-old male who presented a mild bleeding tendency. The patient appears to be a hemophilia and at the same time heterozygote for factor VII deficiency. This conclusion is based on the fact that heterozygosis for factor VII deficiency was present in the father and in other relatives of the paternal side. On the contrary, no factor VII deficiency was present in the maternal side of the family. However, the maternal grandfather was known to have been a bleeder and the propositus' mother, his sister and his aunt had low-normal factor VIII levels and were probably hemophilia A carriers. This type of combined factor VII and factor VIII deficiency appears to be due to the casual association of two independently segregating defects.

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010973 Platelet Adhesiveness The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces. Adhesiveness, Platelet,Adhesivenesses, Platelet,Platelet Adhesivenesses
D010974 Platelet Aggregation The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS. Aggregation, Platelet
D001772 Blood Cell Count The number of LEUKOCYTES and ERYTHROCYTES per unit volume in a sample of venous BLOOD. A complete blood count (CBC) also includes measurement of the HEMOGLOBIN; HEMATOCRIT; and ERYTHROCYTE INDICES. Blood Cell Number,Blood Count, Complete,Blood Cell Counts,Blood Cell Numbers,Blood Counts, Complete,Complete Blood Count,Complete Blood Counts,Count, Blood Cell,Count, Complete Blood,Counts, Blood Cell,Counts, Complete Blood,Number, Blood Cell,Numbers, Blood Cell
D001780 Blood Coagulation Tests Laboratory tests for evaluating the individual's clotting mechanism. Coagulation Tests, Blood,Tests, Blood Coagulation,Blood Coagulation Test,Coagulation Test, Blood,Test, Blood Coagulation
D005168 Factor VII Deficiency An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation. Hypoproconvertinemia,Deficiency, Factor 7,Deficiency, Factor Seven,Deficiency, Factor VII,Factor 7 Deficiency,Deficiencies, Factor 7,Deficiencies, Factor Seven,Deficiencies, Factor VII,Factor 7 Deficiencies,Factor Seven Deficiencies,Factor Seven Deficiency,Factor VII Deficiencies,Hypoproconvertinemias
D005340 Fibrinogen Plasma glycoprotein clotted by thrombin, composed of a dimer of three non-identical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products. Coagulation Factor I,Factor I,Blood Coagulation Factor I,gamma-Fibrinogen,Factor I, Coagulation,gamma Fibrinogen
D006467 Hemophilia A The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage. Factor VIII Deficiency,Hemophilia,Autosomal Hemophilia A,Classic Hemophilia,Deficiency, Factor VIII,Factor 8 Deficiency, Congenital,Factor VIII Deficiency, Congenital,Haemophilia,Hemophilia A, Congenital,Hemophilia, Classic,As, Autosomal Hemophilia,Autosomal Hemophilia As,Classic Hemophilias,Congenital Hemophilia A,Congenital Hemophilia As,Hemophilia A, Autosomal,Hemophilia As,Hemophilia As, Autosomal,Hemophilia As, Congenital,Hemophilias, Classic
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes

Related Publications

A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
January 1980, Acta haematologica,
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
December 2021, Hematology/oncology clinics of North America,
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
January 1977, Folia haematologica (Leipzig, Germany : 1928),
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
February 1993, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis,
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
December 1973, Minerva pediatrica,
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
December 1973, Blood,
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
January 1971, Bullettino delle scienze mediche,
A Girolami, and R Dal Bo Zanon, and F Fabris, and R Franzoso
January 1995, Advances in experimental medicine and biology,
Copied contents to your clipboard!