Inherited factor X deficiency in two brothers

S Barik1, A Budhraja, M Bhalla

  • 1Department of Pathology and Haematology, Jawahar Lal Nehru Hospital and Research Centre, Bhilai-Durg, India.

Two brothers born to same parents were diagnosed with inherited factor X deficiency of severe type. Clinical presentation in both the cases were haemarthrosis. The elder brother was diagnosed in the year 1991 when he was four and half years old. Recently the youngest child in the family also presented with haemarthrosis at age of one and half years. Diagnosis was made by abnormal results of Coagulation factors screening mainly Prothrombin time, Activated partial thromboplastin time, Russell's viper venom test, mixing tests factor X assay. Both the brothers had Factor X activity less than one percent.

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Dosage Compensation02:50

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will have...
Factors Affecting Illness01:18

Factors Affecting Illness

When a person's physical, emotional, intellectual, social development or spiritual functioning is compromised, this deviation from a healthy normal state is called illness. Illness creates stress that in turn harms individuals. Irritation, anger, denial, hopelessness, and fear are behavioral and emotional changes an individual experiences in the phases of illness. A variety of factors influence a person's health and well-being.
For instance, risk factors are connected to illness, disability,...