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Genetic and Hereditary Diseases

Down Syndrome

Cause: Extra copy of chromosome 21
Symptoms:

  • Intellectual disability
  • Distinct facial features (flattened face, almond-shaped eyes)
  • Delayed development
  • Heart defects
  • Poor muscle tone

Cystic Fibrosis

Cause: Mutation in the CFTR gene affecting mucus production
Symptoms:

  • Persistent cough with thick mucus
  • Frequent lung infections
  • Difficulty breathing
  • Poor weight gain and growth
  • Digestive issues (fatty stools, malnutrition)

Sickle Cell Disease

Cause: Mutation in the HBB gene causing abnormal hemoglobin
Symptoms:

  • Severe pain episodes (sickle cell crisis)
  • Anemia (low red blood cell count)
  • Swelling in hands and feet
  • Frequent infections
  • Delayed growth and puberty

Huntington’s Disease

Cause: Mutation in the HTT gene causing brain cell degeneration
Symptoms:

  • Uncontrolled movements (chorea)
  • Cognitive decline (memory loss, difficulty concentrating)
  • Depression and mood swings
  • Speech and swallowing difficulties
  • Loss of coordination

Muscular Dystrophy

Cause: Mutation in the DMD gene affecting muscle proteins
Symptoms:

  • Progressive muscle weakness
  • Difficulty walking and climbing stairs
  • Frequent falls
  • Enlarged calves
  • Heart and breathing problems in later stages

Hemophilia

Cause: Deficiency of clotting factors due to mutations in F8 or F9 genes
Symptoms:

  • Excessive bleeding from minor injuries
  • Spontaneous joint bleeding
  • Easy bruising
  • Prolonged bleeding after surgery or dental work
  • Internal bleeding (in severe cases)

Tay-Sachs Disease

Cause: Mutation in the HEXA gene causing toxic substance buildup in the brain
Symptoms:

  • Loss of motor skills (e.g., unable to sit or crawl)
  • Seizures
  • Vision and hearing loss
  • Progressive paralysis
  • Death in early childhood (severe form)

Thalassemia

Cause: Mutation in the genes responsible for hemoglobin production
Symptoms:

  • Severe anemia
  • Fatigue and weakness
  • Bone deformities (especially in the face)
  • Slow growth and development
  • Enlarged spleen

Marfan Syndrome

Cause: Mutation in the FBN1 gene affecting connective tissue
Symptoms:

  • Tall and thin body structure
  • Long arms, legs, and fingers
  • Heart problems (aortic enlargement)
  • Joint hypermobility
  • Vision problems

Phenylketonuria

Cause: Mutation in the PAH gene leading to toxic buildup of phenylalanine
Symptoms:

  • Intellectual disability (if untreated)
  • Seizures
  • Behavioral problems
  • Musty odor in breath, skin, or urine
  • Skin rashes

When to Seek Medical Advice?

Consult a doctor if you or a family member experience:
✅ Developmental delays or intellectual disability
✅ Frequent infections or unexplained pain episodes
✅ Unusual bleeding or bruising
✅ Progressive muscle weakness
✅ Unexplained growth abnormalities

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