“Thrombocytopenia”, Victor McKusick, Mendelian Inheritance in Man, 1966. 血小板减少症。(THC9).

Here I present: “Thrombocytopenia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 血小板减少症。(THC9).

INTRODUCTION.

Thrombocytopenia is a condition characterized by abnormally low levels of platelets (also known as thrombocytes) in the blood. Low levels of platelets in turn may lead to prolonged or excessive bleeding. It is the most common coagulation disorder among intensive care patients and is seen in a fifth of medical patients and a third of surgical patients.

Thrombocytopenia type-9 (THC9) is an autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others do not show bleeding and thrombocytopenia may be an incidental finding. Platelets may show normal function and morphology or be slightly enlarged with platelet anisotropy.

There is evidence that thrombocytopenia type-9 is caused by heterozygous mutation in the thrombopoietin (THPO) gene on cytogenetic location 3q27.1 and genomic coordinates 3:184,371,935-184,379,688. The screenshot of the THPO gene 7,754 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides THPO in the 3q27.1 cytogenetic location are listed BENEATH.