QUESTION: Which of the following is not a hereditary disease?
A Thalassemia
B Color-Blindness
C Haemophilia
D Leukemia
ANSWER: Leukemia
| Name of disease | Genetic Cause | Inheritance Pattern | Symptoms | Treatment |
| Thalassemia | Mutations in HBB or other genes | Autosomal Recessive | · Anemia
· Fatigue · Potential organ damage. |
· Blood transfusions
· Iron chelation · Bone marrow transplant |
| Cystic Fibrosis | Mutations in CFTR gene | Autosomal Recessive | · Lung and digestive system problems
· Increased mucus production. |
· Medications,
· Airway clearance techniques · Lung transplant |
| Color Blindness | Various gene mutations | X-Linked Recessive | · Difficulty distinguishing between certain colors, often red and green. | · Color-correcting aids |
| Huntington’s Disease | Mutations in HTT gene | Autosomal Dominant | · Progressive motor and cognitive deterioration. | · Symptomatic treatment
· Counseling · Support |
| Sickle Cell Anemia | Mutations in HBB gene | Autosomal Recessive | · Abnormal red blood cells
· Anemia · Organ damage |
· Blood transfusions
· Pain management |
| Hemophilia | Mutations in F8 or F9 genes | X-Linked Recessive | · Impaired blood clotting | · Replacement clotting factor therapy |
| Duchenne Muscular Dystrophy | Mutations in DMD gene | X-Linked Recessive | · Progressive muscle weakness
· Loss of mobility |
· Physical therapy
· Steroids · Supportive care |
| Tay-Sachs Disease | Mutations in HEXA gene | Autosomal Recessive | · Neurodegeneration developmental delays | · Supportive care and symptom management. |
| Marfan Syndrome | Mutations in FBN1 gene | Autosomal Dominant | · Tall stature
· Heart and eye problems |
· Medications (beta-blockers)
· Surgery (aortic repair) |
| Down Syndrome | Extra copy of chromosome 21 | Trisomy 21 | · Intellectual disability
· Distinctive physical features |
· Early intervention therapy |
| Polycystic Kidney Disease (PKD) | Mutations in PKD1 or PKD2 genes | Autosomal Dominant | · Kidney cysts
· Potential kidney failure |
· Symptomatic treatment
· Dialysis · Kidney transplant |