Thrombocytopenia Absent Radii

Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal.

Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and frequent nosebleeds. Potentially life-threatening episodes of severe bleeding (hemorrhages) may occur in the brain and other organs, especially during the first year of life. Hemorrhages can damage the brain and lead to intellectual disability. Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development.

Causes of the disease

Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1, which includes a different copy of the RBM8A gene in each cell. A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and no deletion on chromosome 1. Mutations of the RBM8A gene that cause TAR syndrome reduce the amount of RNA binding protein 8A in cells.

People with a mutation of the RBM8A gene and a deletion of chromosome 1 or with two gene mutations have a reduced amount of RNA-binding protein 8A. This reduction is thought to cause problems in the development of certain tissues, but it is not known how it causes specific signs and symptoms of TAR syndrome.

Treatment of the disease

If this pathology is suspected, any physical activity and activity should be immediately restricted. You can undergo an examination in the country’s leading clinic equipped with state-of-the-art equipment. The staff of the oncohematology department has many years of practical experience and significant knowledge, uses advanced effective techniques in diagnosis and treatment. Main survey methods:

• Complete blood test with tests, including for antibodies.
• Radiography.
• ULTRASOUND.
• ECG.
• Endoscopy.

Treatment is aimed primarily at eliminating the cause that caused thrombocytopenia and already based on the results of the diagnosis, the doctor will prescribe the optimal regimen of therapy. Treatment is based on taking hormonal drugs that regulate blood levels of platelets. Blood purification is carried out, immunoglobulin is intravenously administered. Tel Aviv Medical Clinic uses only original, certified medicinal substances, with minimal side effects.