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In this genetic pattern, just one copy of an altered gene from either parent can lead to the manifestation of a specific trait or disorder. This mode of inheritance is characterized by its ability to affect both males and females equally.
Autosomal recessive inheritance requires two copies of a recessive gene for the trait or disorder to be expressed. In this scenario, both parents must be carriers of the recessive gene, though they may not show any signs of the condition themselves.
This unique form of inheritance is governed by genes in the mitochondria, the powerhouse of the cell. Unlike other inheritance patterns, mitochondrial inheritance is exclusively maternal, meaning these genes are passed down from a mother to her children, but not from a father.
In X-linked inheritance, the genes responsible for certain traits or disorders are located on the X chromosome. This pattern can be dominant or recessive, but it's more commonly seen in a recessive form. Males, having only one X chromosome, are more frequently affected by recessive X-linked disorders than females, who have two X chromosomes. Hemophilia and color blindness are examples of conditions often associated with X-linked inheritance.
Y-linked inheritance involves genes located on the Y chromosome, which is one of the two sex chromosomes in humans. This pattern of inheritance is only possible from father to son, as only males carry a Y chromosome. Traits or disorders inherited in this way are exclusively observed in males, and they are passed down from father to all of his sons. Y-linked inheritance is relatively rare compared to other types.
- Cystic Fibrosis (CF): Cystic fibrosis is a single gene disorder that causes problems in the respiratory and digestive systems due to the thickening of mucus and other fluids in the body. Treatment methods include:
- Mucolytic drugs to clear the respiratory passages.
- Antibiotics to control infections.
- Pancreatic enzymes and dietary changes to address digestive problems.
- Physiotherapy and respiratory exercises to alleviate symptoms.
- Phenylketonuria (PKU): PKU is a disorder caused by a defect in phenylalanine metabolism, leading to the accumulation of phenylalanine in the body. Treatment methods include:
- Strict control of the diet to limit phenylalanine intake.
- Special dietary supplements to restrict phenylalanine.
- Medications or enzyme therapy.
- Tay-Sachs Disease: Tay-Sachs disease is a disorder that results in nerve system problems due to a defect in lipid metabolism in neurons. Unfortunately, there is no definitive cure for this disease, and treatment is generally focused on alleviating symptoms.
- Hemophilia: Hemophilia is a genetic disorder that affects the blood’s ability to clot. Treatment methods include:
- Infusions of clotting factors to compensate for their deficiency.
- Medications and transfusions to control bleeding.
- Prophylactic clotting factor infusions in severe cases to prevent bleeding.
- Mucopolysaccharidoses (MPS): MPS disorders involve the accumulation of specific glycosaminoglycans in the body due to genetic mutations. Treatment methods include enzyme replacement therapy, surgical interventions, and symptom management.
The treatment of single gene disorders typically aims to alleviate symptoms and improve the quality of life, but complete cure is often not possible. Treatment approaches may vary depending on the disease and its symptoms, so an individualized treatment plan may be required for each patient. It is important to acquire more information about the disease and consult with a specialist regarding treatment options.