How Do You Spell CONGENITAL ANTITHROMBIN III DEFICIENCY?

Pronunciation: [kənd͡ʒˈɛnɪtə͡l ˌantɪθɹˈɒmbɪn ɹˌə͡ʊmən θɹˈiː dɪfˈɪʃənsi] (IPA)

Congenital antithrombin III deficiency is a genetic disorder that affects blood clotting, specifically the protein antithrombin III. The word can be broken down into four syllables: con-GEN-i-tal an-ti-THROM-bin III de-FI-ci-en-cy, with stress on the second and fourth syllables. The phonetic transcription is /kənˈdʒɛnɪtl æntiˈθrɒmbɪn ˈθriː dɪˈfɪʃənsi/, with each phoneme representing a sound in the word. Spelling it correctly ensures accurate diagnosis and treatment for affected individuals.

CONGENITAL ANTITHROMBIN III DEFICIENCY Meaning and Definition

1. Congenital antithrombin III deficiency is a hereditary disorder characterized by a lack of a protein called antithrombin III (AT-III) in the blood. Antithrombin III is a natural anticoagulant, meaning it acts to prevent or limit the formation of blood clots within the body. This deficiency puts individuals at a higher risk of developing abnormal and potentially dangerous blood clots, known as thrombosis.

   Typically inherited in an autosomal dominant pattern, congenital antithrombin III deficiency is caused by mutations in the gene responsible for producing AT-III protein. Although it is present from birth, symptoms may not become apparent until later in life, especially during periods of increased risk such as pregnancy or surgery.

   The condition can present with various symptoms, including deep vein thrombosis (blood clots in the deep veins, typically in the legs), pulmonary embolism (a blood clot that travels to the lungs), and recurrent miscarriages in women. Other features may include thrombophlebitis (inflammation of the veins with blood clot formation), stroke, or even organ damage due to blocked blood flow.

   Congenital antithrombin III deficiency is diagnosed through laboratory tests measuring the levels and function of antithrombin III in the blood. Treatment options include the administration of anticoagulant medications, such as heparin or warfarin, to prevent the formation of blood clots. In some cases, genetic counseling may be recommended for affected individuals and their families to discuss the risks and inheritance patterns of the condition.

Common Misspellings for CONGENITAL ANTITHROMBIN III DEFICIENCY

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Plural form of CONGENITAL ANTITHROMBIN III DEFICIENCY is CONGENITAL ANTITHROMBIN III DEFICIENCIES