SNP Shot: Genomic Insights

Ghosal hematodiaphyseal dysplasia is a rare genetic disorder that causes bones to become abnormally thick and reduces the production of red blood cells, resulting in anemia. This condition manifests in early childhood.

Individuals with this disorder develop unusually dense and wide long bones in their limbs. These bone alterations primarily affect the diaphyses (shafts) and metaphyses (areas near the ends) of the long bones. These bone changes can cause bowed legs and impaired mobility.

Another feature of Ghosal hematodiaphyseal dysplasia is fibrosis, or scarring, within the bone marrow. The bone marrow, located inside long bones, is responsible for generating blood cells. In this condition, the scarred bone marrow is unable to produce a sufficient number of red blood cells, leading to anemia. Common symptoms of anemia associated with Ghosal hematodiaphyseal dysplasia include pallor (unusually pale skin) and fatigue (extreme tiredness).

Inheritance:

Ghosal hematodiaphyseal dysplasia follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically asymptomatic carriers.