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Tay-Sachs Disease Pathophysiology

Tay-Sachs Disease is a progressive and fatal genetic condition that involves a complete deficiency of the hexosaminidase-A (HEXA) enzyme. This enzyme is needed in healthy individuals for the process of hydrolysis of GM2 ganglioside to occur. For individuals with Tay-Sachs disease that lack this enzyme, the fatty substance of GM2 ganglioside accumulates in the brain and leads to the symptoms of the disease.

23 Nov 2009

What is Tay-Sachs Disease?

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.

23 Nov 2009

Sickle-Cell Disease History

It was not until 1910 that the first report of sickle cell disease was published in scientific literature.

23 Nov 2009

Sickle Cell Disease Carriers

Sickle cell disease carriers, also sometimes referred to as people with sickle cell trait, are individuals that carry a single gene mutation for sickle cell disease.

23 Nov 2009

Sickle-Cell Disease Treatment

When a child is diagnosed with sickle cell disease (SCD), they should be referred to a multidisciplinary specialist care team, experienced in the management of SCD. This team may be made up of a paediatrician, haematologist, clinical psychologist, pharmacist, physiotherapist, social worker and specialized nurse to help provide care for the various aspects of living with SCD on a chronic basis.

23 Nov 2009

Sickle-Cell Disease Genetics

Sickle-cell disease is caused by a gene mutation that leads to the production of Sickle hemoglobin.

23 Nov 2009

Sickle-Cell Disease Pathophysiology

Sickle cell disease is an inherited genetic condition that involves defects in the shape and function of hemoglobin in the blood.

23 Nov 2009

Sickle Cell Disease Diagnosis

The diagnosis of sickle cell disease usually involves a blood test that is analysed for defected genes or haemoglobin cells.

23 Nov 2009

Sickle-Cell Disease Symptoms

Although sickle cell disease is present from birth, most patients do not begin to show signs of the condition until after the age of 4 to 6 months.

23 Nov 2009

Sickle-Cell Disease Classification

Sickle cell disease is a health condition that has the potential to lead to a number of complications, due to the altered shape of haemoglobin in the blood.

23 Nov 2009

What is Sickle-Cell Disease?

Sickle cell disease (SCD), also known as sick cell anaemia, encompasses a group of genetic disorders characterized by abnormal haemoglobin in red blood cells.

23 Nov 2009

Multifactorial And Polygenic (Complex) Genetic Disorder

One of the challenges for the coming generation of human geneticists will be to resolve complex polygenic and multifactorial disorders.

23 Nov 2009

What are Single Gene Disorders?

When a certain gene can be pinpointed as a cause of a disease, we refer to it as a single gene disorder or a Mendelian disorder.

23 Nov 2009

What are Genetic Disorders?

Genetic disorders are conditions caused by abnormalities in the genetic material contained within our cells.

23 Nov 2009

Joubert Syndrome Genetics

Joubert syndrome is characterized by distinctive cerebellar and brain stem malformation called the “molar tooth sign,” hypotonia, and developmental delays.

23 Nov 2009

What is Joubert Syndrome?

Joubert syndrome is an autosomal recessive neurodevelopmental disorder that is characterized by a brain abnormality called the “molar tooth sign.”

23 Nov 2009

Von Willebrand Disease Pathophysiology

von Willebrand disease is the result of a reduction in the plasma levels of, or the production of a defective form of, the coagulation factor known as vWF.

23 Nov 2009

Von Willebrand Disease Types

The condition known as von Willebrand disease (vWD) may be categorized into three types, of which types 1 and 3 are due to a deficiency in the level of von Willebrand factor. Type 2 shows normal vWF levels but with serious qualitative defects.

23 Nov 2009