Thalassemia(Abnormal Hb) is a group of inherited blood disorders characterized by abnormal hemoglobin production, leading to reduced red blood cell production and anemia. It is a genetic disorder that affects the synthesis of hemoglobin, the oxygen-carrying protein in red blood cells. It is characterized by the reduced production or malfunctioning of either alpha or beta […]
Sickle cell anemia is a hereditary blood disorder characterized by the production of abnormal hemoglobin, resulting in misshapen red blood cells. It is a genetic disorder caused by a mutation in the gene responsible for producing hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. This mutation leads to the […]
Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems. It is characterized by the production of thick and sticky mucus, which can obstruct the airways, impair lung function, and hinder the proper digestion of food. Symptoms –Common symptoms of CF includes –• Chronic coughing• Frequent lung infections• Wheezing• Breathlessness• […]
Ectodermal dysplasia is a large group of inherited disorders characterised by a primary defect in hair, teeth, nails or sweat gland function, in addition to another abnormality in any tissue of ectodermal origin. These are ears, eyes, lips, mucous membranes of the mouth or nose, and the central nervous system. The ectoderm is the outermost layer of cells in embryonic development and contributes to the formation of many […]
Thalssemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalssemia, you might not need treatment. But more severe forms might require regular blood transfusions. Symptoms –The symptoms of thalssemia […]
Turner syndrome is a genetic condition found in females only. It affects about 1 in every 2,500 girls. It occurs when part or all of one of your X chromosomes is missing. It’s also called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. Types –The type of Turner syndrome (TS) a person has depends on the problem with […]
Klinefelter syndrome (KS) is a genetic condition where there’s an extra X chromosome present in a male’s genetic code. Instead of having a total of 46 chromosomes, they have 47 — with two copies of the X chromosome and one copy of the Y chromosome (47,XXY). It is fairly common, happening in about 1 in […]