| hemophilia | <disease, haematology> A haemorrhagic diathesis occurring in two main forms: 1. Haemophilia A (classic haemophilia, factor VIII deficiency), an X linked disorder due to deficiency of coagulation factor VIII. 2. Haemophilia B (factor IX deficiency, Christmas disease), also X linked, due to deficiency of coagulation factor IX. Both forms are determined by a mutant gene near the telomere of the long arm of the X chromosome (Xq), but a different loci and are characterised by subcutaneous and intramuscular haemorrhages, bleeding from the mouth, gums, lips and tongue, haematuria and haemarthroses. (18 Nov 1997) |
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| manifesting heterozygote | An organism heterozygous for what is ordinarily a recessive condition which, as a result of special mechanisms (such as lyonization, allelic exclusion, or a deletion in the homologous chromosome), has phenotypic manifestations. Synonym: manifesting carrier. (05 Mar 2000) |
| compound heterozygote | In medical genetics, the presence of two different mutant alleles at the same loci. Synonym: genetic compound. (05 Mar 2000) |
| heterozygote | Nucleus, cell or organism with different alleles of one or more specific genes. A heterozygous organism will produce unlike gametes and thus will not breed true. (18 Nov 1997) |
| heterozygote detection | Identification of genetic carriers for a given trait. (12 Dec 1998) |
| inversion heterozygote | <genetics> Individual in which one chromosome contains an inversion whereas the homologous chromosome does not. (18 Nov 1997) |