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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 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

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

Von Willebrand Disease Diagnosis

The condition known as von Willebrand disease is caused by a deficiency in the quantity or quality of von Willebrand factor (vWF).

23 Nov 2009

Von Willebrand Disease Symptoms

The condition known as von Willebrand disease (vWD) is a mild to moderate hemorrhagic disorder that is most commonly caused by a mutation in a coagulation factor known as the von Willebrand factor (vWF).

23 Nov 2009

What is Von Willebrand Disease?

Von Willebrand disease (vWD) is the most common inherited bleeding disorder and affects approximately 1% of the population.

23 Nov 2009

Color Blindness Misconceptions

Several misconceptions and myths surround the topic of color vision deficiency. One common misunderstanding is that color blind individuals mistake one color for another, such as seeing red when others see green or vice versa. Instead, people who are color blind cannot distinguish colors at all and the world they see is made up of varying hues of grey.

23 Nov 2009

Color Blindness Treatment

Color blindness or color vision deficiency is incurable and there is no specific treatment that can help individuals with this condition.

23 Nov 2009

Implications of Color Blindness

When color vision deficiency is severe, the condition can have a significant impact on a person’s life. When the deficiency is mild, on the other hand, the symptoms may often go unnoticed until color vision is tested.

23 Nov 2009

Color Blindness Clinical Forms

Color blindness is a term that is often used to refer to color vision deficiency. True color blindness is actually just one form of colour vision deficiency and is an extremely rare condition. Colour vision deficiencies are usually inherited disorders, although they may also occur as a side effect of some medications or as a result of certain illnesses.

23 Nov 2009

Congenital Color Vision Deficiencies

There are three types of cone cells in the retina that allow an individual to perceive three basic colors – blue, green and red. Most humans are born as what are called trichomats which means they can perceive all three of these colors.

23 Nov 2009

What Causes Color Blindness?

The exact cause of color vision deficiency is unknown. In most individuals, the condition is an inherited disorder and around 5% of the general population are color vision deficient.

23 Nov 2009