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What is Fanconi Anemia?

Fanconi anemia is a genetic condition that affects DNA repair enzymes, which predisposes affected individuals to cancer.

23 Nov 2009

Marfan Syndrome Treatment

As there is currently no cure available for Marfan syndrome, the aim of treatment is to manage the symptoms and reduce the risk of complications.

23 Nov 2009

Marfan Syndrome Diagnosis

The presenting symptoms of Marfan syndrome can be highly variable and, as a result, the diagnosis of the condition can be difficult.

23 Nov 2009

Marfan Syndrome Symptoms

Marfan syndrome affects many organs and systems in the body, and the severity of the symptoms can vary significantly among different patients.

23 Nov 2009

Marfan syndrome occurs in approximately 1 in every 5000 individuals. It is an autosomal dominant disorder therefore the majority of people with Marfan syndrome have a 50% chance of inheriting the defective gene from whichever parent who suffers from the disorder. Alternatively, in approximately 25-30% of those with Marfan syndrome the condition has developed due to a spontaneous mutation yielding the defective gene.

23 Nov 2009

Thalassemia Benefits

Thalassemia is a genetic blood disorder that is associated with a reduction in haemoglobin in red blood cells and, subsequently, insufficient oxygen reaching cells in the body. However, individuals with this condition may actually be at an advantage when it comes to certain diseases, such as malaria, as it may offer a protective effect.

23 Nov 2009

Thalassemia Treatment

The treatment for thalassemia, a group of hereditary blood conditions, can vary greatly according to the individual circumstances and the presenting symptoms.

23 Nov 2009

Thalassemia Genetic Prevalence

Thalassemia is a genetic disorder that is due to mutations of the genes that are responsible for the production of hemoglobin in the blood.

23 Nov 2009

Thalassemia Pathophysiology

Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing hemoglobin. Read more here.

23 Nov 2009

Thalassemia Prevalence

Thalassemia affects approximately 4.4 of every 10,000 live births throughout the world.

23 Nov 2009

What is Thalassemia?

Beta thalassemia describes a condition of the blood characterized by abnormal hemoglobin in the red blood cells. This abnormal hemoglobin is reduced in its capacity to transport oxygen around the body, which leads to anemia, fatigue, weakness and shortness of breath.

23 Nov 2009

Celiac Disease Treatment

At present there is no cure or specific medicinal treatment for celiac disease. The present treatment of celiac disease revolves around making the diet completely free of gluten that induces hypersensitivity and brings on symptoms.

23 Nov 2009

Celiac Disease Screening

First degree relatives like parents, offspring and siblings are genetically at a higher risk of developing celiac disease. Second degree relatives are less so.

23 Nov 2009

Celiac Disease Diagnosis

Celiac disease involves inflammation and damage caused to the inner lining of the small intestines due to an autoimmune process.

23 Nov 2009

Celiac Disease Symptoms

Celiac disease affects the small intestines and the symptoms are usually brought about by the ingestion of gluten.

23 Nov 2009

What is Celiac Disease?

Celiac disease affects the gastrointestinal tract - especially the small intestines. It is seen in genetically predisposed children and adults.

23 Nov 2009

Retinitis Pigmentosa Cause

Retinitis pigmentosa is characterised by changes in the pigment layer of the retina. The pigment layer of the retina invades and damages the nerve layer and with time it affects the blood vessels of the retina as well

23 Nov 2009

Retinitis Pigmentosa Genetics

Retinitis pigmentosa is one of the commonest forms of inherited retina degenerative blindness worldwide. With the advent of molecular technologies it has become easier to identify the genetic defects associated with this condition.

23 Nov 2009

Retinitis Pigmentosa Diagnosis

Retinitis pigmentosa is commonly identified by the examination of the appearance of the retina using slit lamp biomicroscopy. Common findings on examination and steps in diagnosis include...

23 Nov 2009

What is Retinitis Pigmentosa?

Retinitis pigmentosa (RP) is a disease condition that was first identified and named by Dr. Donders in 1857. Retinitis pigmentosa is a group of related conditions that are inherited, progressive and clinically distinctive and share a similar feature of dystrophy or damage to the photoreceptors of the retina and of the pigment epithelium underneath the photoreceptors.

23 Nov 2009