TRANSLOCATION IN ACUTE PROMYELOCYTIC LEUKEMIA

Translocation in Acute Promyelocytic Leukemia

Introduction

Acute Promyelocytic leukemia is usually called APL, malignant bone marrow in which there is a deficiency of mature blood cells in the myeloid cell lines and an excess of immature cells called promyelocytes. APL associated with translocation (exchange of chromosomal material) between chromosomes 15 and 17, which is the symbol T (15, 17) (Lowenberg Griffin Tallman 2003). This movement is not simply a marker of APL. This is the cause of APL.

APL was first recognized as a separate entity of the disease in 1957. It accounts for 5-10% of cases of acute myeloid leukemia (AML). APL is the type of AML and is classified as an M3 version of the anti-money laundering within its internationally recognized French-American-British (FAB) classification.

Symptoms

Signs and symptoms of APL are nonspecific and include fatigue (feeling tired), minor infections, or a tendency to bleed (haemorrhagic diathesis). There is usually a pancytopenia with a low level of red blood cells (anemia), low levels of granulocytes and monocytes (types of white blood cells that fight infections), and low platelets (needed for blood clotting normally). Patients with APL may therefore receive a transfusion.

APL consistently associated with a disorder that resembles (but not identical to) disseminated intravascular coagulation (DIC) (Soignet Frankel Douer 2001). There is in APL pronounced tendency to hemorrhage (bleeding). Bleeding may manifest itself as petechiae (little room bleeding into the skin or elsewhere), small bruises (bruises), epistaxis (nasal bleeding), bleeding in the mouth, hematuria (blood in urine), bleeding from a vein and bone marrow sites and girls and women during menstruation may be menometrorrhagia (excessive irregular menstrual bleeding). Hemorrhagic diathesis (bleeding condition) may precede the diagnosis of leukemia at 2-8 weeks.

What is a chromosome translocation?

It is assumed that 1 in 625 individuals in the general population carry a balanced chromosomal translocation (Soignet 2001). Other chromosomal translocations may occur more frequently in the general population. Individuals who carry balanced chromosomal translocations contain all their genetic information, but some of the chromosomes are swapped. Chromosomes are structures in our cells that carry our genetic information or genes. Usually, we have 46 chromosomes in the cells. Chromosomes come in pairs and are numbered according to their size. The largest chromosome pair number 1 and the smallest is # 22. Sex chromosomes X and Y. Females have two X chromosomes and males have one X and one Y. inherit half of our chromosomes (23) from each parent in the egg and sperm. Persons with chromosomal translocations, usually healthy, but they are at increased risk of infertility, miscarriage, stillbirth, and / or having a baby with birth defects.

Pre-implantation genetic testing for chromosomal translocations is in a position to distinguish the chromosomes of normal and abnormal embryos (Douer 2002). Currently, the only is way to determine whether the embryo is chromosomally normal or "balanced" before pregnancy. PGD could allow laboratories to select those embryos that are known to be a "balanced" or normal, thus avoiding achieve pregnancy with an unbalanced set ...