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Recessive genetic disorders

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Thalassemia. Thalassemia (British English: thalassaemia) are forms of inherited autosomal recessive blood disorders that originated in the Mediterranean region.

Thalassemia

In thalassemia, the disorder is caused by the weakening and destruction of red blood cells. Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe anemia. Thalassemia will be present as microcytic anemia. Thalassemia can cause significant complications, including iron overload, bone deformities and cardiovascular illness. Signs and symptoms[edit] Iron overload: People with thalassemia can get an overload of iron in their bodies, either from the disease itself or from frequent blood transfusions. Cause[edit] There are an estimated 60-80 million people in the world carrying the beta thalassemia trait.

Chronic granulomatous disease. Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, Chronic granulomatous disorder, and Quie syndrome[1]) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly, the superoxide radical) used to kill certain ingested pathogens.[2] This leads to the formation of granulomata in many organs.[3] CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year.[4][5] Classification[edit] Chronic granulomatous disease is the name for a genetically heterogeneous group of immunodeficiencies.

Chronic granulomatous disease

The core defect is a failure of phagocytic cells to kill organisms that they have engulfed because of defects in a system of enzymes that produce free radicals and other toxic small molecules. Symptoms[edit] Atypical infections[edit] Patients with CGD can usually resist infections of catalase-negative bacteria. Tay–Sachs disease. Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency ) is a rare autosomal recessive genetic disorder.

Tay–Sachs disease

In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells. A ganglioside is a form of sphingolipid, which makes Tay–Sachs disease a member of the sphingolipidoses.

There is no known cure or treatment. Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on (human) chromosome 15. NBIA. From Wikipedia, the free encyclopedia NBIA may refer to: neurodegeneration with brain iron accumulation, a group of degenerative diseases of the brain(New) Bangkok International Airport (Suvarnabhumi Airport), an international airport serving Bangkok, ThailandNational Biomedical Imaging Archive, a National Cancer Institute repository of medical images for researchers and imaging tool developersNormandy Beach Improvement Association.

NBIA

Pantothenate kinase-associated neurodegeneration. Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and formerly called Hallervorden–Spatz syndrome (use of this eponym is discouraged due to Drs.

Pantothenate kinase-associated neurodegeneration

Julius Hallervorden and Hugo Spatz's affiliation with the Nazi regime and the ethically unacceptable manner in which they obtained 110,000 autopsy specimens from 2,800 victims of the T-4 psychiatric patient gassings[1][2][3]), is a degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain. Signs and symptoms[edit] Symptoms typically begin in childhood and are progressive, often resulting in death by early adulthood.

Symptoms of PKAN begin before middle childhood, and most often are noticed before ten years of age. Cystic fibrosis. Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine.

Cystic fibrosis

It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.[1] The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.[2] Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with antibiotics and other medications. Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body.

CF is caused by a frameshift mutation in the gene [3] for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive fluids, and mucus. Signs and symptoms[edit] Health problems associated with cystic fibrosis.