The document discusses various genetic disorders, including familial cancer syndromes, inborn errors of metabolism, blood group alleles, hematological disorders, and mental illnesses. It covers definitions, key concepts, implications for family members, risk-reducing strategies, and treatment approaches for conditions such as Huntington's disease, anemia, and hemochromatosis. Emphasis is placed on genetic testing, prevention, collaboration among specialists, and the management of symptoms.

1. CANCER GENETICS:
FAMILIAL CANCER

2. CANCER GENETICS: FAMILIAL
CANCER
• Definition:
• Presence of a hereditary predisposition to cancer within
families.
• Key Concepts:
• Inherited Mutations: Specific genetic mutations passed from
one generation to the next.
• Increased Risk: Individuals with familial cancer may have a
higher likelihood of developing specific types of cancer.

3. COMMON FAMILIAL CANCER SYNDROMES:
• 1. Hereditary Breast and Ovarian Cancer (HBOC):
• Genes: BRCA1, BRCA2.
• Associated Cancers: Breast, ovarian, prostate, pancreatic.
• 2.Lynch Syndrome (Hereditary Nonpolyposis
• Colorectal Cancer - HNPCC):
• Genes: MLH1, MSH2, MSH6, PMS2.
• Associated Cancers: Colorectal, endometrial, ovarian, stomach

4. • 3. Familial Adenomatous Polyposis (FAP):
• Gene: APC (Adenomatous Polyposis Coli).
• Associated Cancers: Colorectal, thyroid, hepatoblastoma.

5. PREVENTIVE
MEASURES

6. SCREENING AND TESTING:
• Genetic Counseling: Discussion of family history, risk
assessment, and counseling on testing implications.
• Genetic Testing: Identification of specific mutations
associated with familial cancers.
• Surveillance and Prevention: Increased surveillance
or risk-reducing interventions for individuals with
identified mutations.

7. IMPLICATIONS FOR FAMILY MEMBERS:
• Cascade Testing: Testing other family
members if a pathogenic mutation is
identified.
• Shared Risk: Family members may share a
higher risk of developing specific cancers.

8. RISK-REDUCING STRATEGIES:
• Prophylactic Surgery: Removal of at-risk organs (e.g.,
mastectomy, oophorectomy).
• Increased Surveillance: More frequent screenings for
early detection.
• Chemoprevention: Use of medications to reduce
cancer risk.

9. MULTIDISCIPLINARY APPROACH:
• Collaboration: Involvement of oncologists,
geneticists, surgeons, and other specialists.
•
Individualized Care: Tailoring
management based on genetic and clinical factors.

10. ETHICAL CONSIDERATIONS:
• Privacy and Confidentiality: Protecting
individuals' genetic information.
• Informed Consent: Ensuring individuals
understand the implications of genetic testing.

11. PUBLIC HEALTH IMPACT:
• Education: Raising awareness about familial cancer
syndromes.
• Population Screening: Considerations for broader
genetic testing in specific populations.

12. INBORN ERRORS OF
METABOLISM

13. INBORN ERRORS OF METABOLISM
• Inborn errors of metabolism (IEM) are a group of
genetic disorders that affect the body's ability to
process and utilize specific substances, such as
carbohydrates, amino acids, and fats.
• These conditions arise from mutations in genes
responsible for producing enzymes or proteins
essential for metabolic pathways.

14. • Metabolism involves the conversion of nutrients from food
into energy and other essential molecules meeded for the
body's functions.
• In individuals with inborn errors of metabolism, the
absence or dysfunction of a particular enzyme disrupts
these metabolic pathways, leading to the accumulation of
harmful substances or a deficiency of necessary products.

15. INBORN ERRORS OF METABOLISM
• Phenylketonuria (PKU): Inability to break down the amino acid phenylalanine, leading to its accumulation
and causing intellectual disabilities.
• Galactosemia: Impaired ability to metabolize galactose, a sugar found in milk, leading to toxic substances
buildup and potential complications.

16. • Maple syrup urine disease: Difficulty breaking down certain amino acids, causing
a sweet odor in urine and neurological issues.
• • Tay-Sachs disease: Accumulation of gangliosides in the brain due to a
deficiency of an enzyme, leading to neurodegeneration.

17. • • Homocystinuria: Amino acid metabolism disorder resulting in elevated homocysteine
levels, leading to various health issues.
• Glycogen storage diseases: Enzyme deficiencies affecting glycogen
breakdown, causing storage issues and impacting energy release.

18. • Wilson's disease: Impaired copper metabolism, leading to copper buildup in
organs, particularly the liver and brain.

19. • Alkaptonuria: Inability to break down homogentisic acid, causing dark pigmentation in
connective tissues and urine.

20. • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD): Impaired
breakdown of fatty acids, potentially causing metabolic crises during fasting.

21. • Cystinosis: Accumulation of cystine in cells, affecting various organs and
leading to kidney dysfunction.

22. BLOOD GROUP ALLELES
HEMATOLOGICAL
DISORDERS

23. BLOOD GROUP ALLELES
• Blood Types: The ABO blood group system classifies blood into four types: A,
B, AB, and O, based on the presence or absence of antigens (A and B) on the
surface of red blood cells.
• Genetic Basis: Blood group alleles are determined by genes located on
chromosome 9. There are three main alleles involved: A, B, and O.

24. ALLELE COMBINATIONS:
• Type A: Individuals with the AA or AO genotype have A antigens on their red
blood cells.
• Type B: Individuals with the BB or BO
• genotype have B antigens.
• Type AB: Individuals with the AB genotype have both A and B antigens.
• Type 0: Individuals with the OO genotype have no A or B antigens.

25. HEMATOLOGICAL DISORDERS
• Hematologic disorders involve the blood and include problems with red blood
cells, white blood cells, platelets, bone marrow, lymph nodes, and spleen.
• Children can experience a variety of disorders, some are genetic while others
are acquired.

26. ANEMIA
• Anemia is a condition characterized by a lower-than-normal quantity of red blood
cells or hemoglobin in the blood.
• This can result in reduced oxygen-carrying capacity, leading to fatigue, weakness,
and paleness.

27. HAEMOPHILIA
• Hemophilia is a genetic disorder where the blood lacks certain clotting factors, leading to
difficulty in blood clotting.
• This can result in prolonged bleeding after injuries or surgeries.

28. THROMBOCYTOPENIA
• Thrombocytopenia is a condition marked by a low
platelet count, which can lead to increased risk of
bleeding and easy bruising.
• • Platelets are crucial for blood clotting.

29. LEUKEMIA
• Leukemia is a type of cancer affecting the blood and bone
marrow, leading to abnormal production of white blood
cells.
• This can result in weakened immune function and anemia.

30. SICKLE CELL ANEMIA
• Sickle cell anemia is a genetic disorder where red blood
cells are misshapen, leading to reduced oxygen-carrying
capacity and a higher likelihood of blockages in blood
vessels.

31. POLYCYTHEMIA VERA
• Polycythemia vera is a disorder characterized by an
overproduction of red blood cells.
• This can lead to thicker blood, increasing the risk of blood
clots and other complications.

32. HEMOCHROMATOSIS
• Hemochromatosis is a condition where there is an excessive
accumulation of iron in the body.
• This excess iron can deposit in organs, causing damage over time.

33. LYMPHOMA
• • Lymphoma is a type of cancer that affects the lymphatic system, including the blood.
• • It can lead to abnormal production of lymphocytes, a type of white blood cell.

34. IDIOPATHIC THROMBOCYTOPENIC
PURPURA (ITP):
• ITP is an autoimmune disorder where the immune system mistakenly attacks and
destroys platelets, leading to low platelet counts and an increased risk of bleeding.

35. GENETIC
HEMOCHROMATOSIS

36. GENETIC HEMOCHROMATOSIS
• Genetic hemochromatosis is an inherited disorder characterized by the
excessive absorption of dietary iron, leading to iron overload in various
organs.

37. CAUSES
• Genetics: Most commonly associated with mutations in the
HFE gene. The two main mutations are C282Y and H63D.
• Iron Absorption: Mutations in HFE lead to increased
intestinal absorption of iron, causing elevated serum iron
levels.

38. SYMPTOMS
• • Early Symptoms: Fatigue, joint pain, abdominal pain.
• Later Symptoms: Organ damage ncluding liver cirrhosis, diabetes, heart issues,
and skin pigmentation changes (bronze or gray).

40. DIAGNOSIS
• Genetic Testing: Identifying HFE gene mutations.
• Serum Iron Levels: Elevated transferrin saturation and serum ferritin.
• Treatment
• Phlebotomy: Regular removal of blood to reduce iron levels.
• Iron Chelation: In cases where phlebotomy is not feasible.

41. COMPLICATION
• Liver Cirrhosis: Chronic iron overload can lead to liver damage.
• Heart Problems: Increased risk of cardiomyopathy and arrhythmias.
• Diabetes: Iron accumulation in the pancreas may contribute to diabetes.

42. HUNTINGTON'S
DISEASE

43. HUNTINGTON'S DISEASE
• Hereditary neurodegenerative disorder affecting the central nervous system.

44. CAUSES
• Mutation in the HTT gene on chromosome
4.
• Expansion of CAG repeats in the gene, ading to abnormal huntington
protein.

45. SIGN & SYMPTOMS
• Motor Symptoms:
• Involuntary jerking or writhing movements (chorea).
• Difficulty with coordination and balance.
• Rigidity.
• Cognitive Symptoms:
• Progressive decline in cognitive function.
• Impaired judgment and memory.
• Difficulty concentrating.
• Psychiatric Symptoms:
• Depression.
• Anxiety.
• Irritability.

46. DIAGNOSTIC EVALUATION
• Genetic Testing:
• • Identifying expanded CAG repeats in the
• HTT gene.
• Neuroimaging:
• • MRI or CT scans may reveal brain atrophy.

47. MANAGEMENT
• Symptomatic Treatment:
• • Medications to manage chorea and psychiatric symptoms.
• Therapy:
• Physical therapy for movement difficulties.
• Occupational therapy for daily activities.
• Speech therapy for communication challenges.
• Supportive Care:
• Counseling and support groups for individuals and families.
• Palliative care to enhance quality of life.
• No Cure:
• • Focus on slowing disease progression and improving quality of life.
• Early Detection:
• • Vital for timely intervention and management.

48. MENTAL ILLNESS

49. TYPES
• Depression:
• Persistent sadness.
• Loss of interest in activities.
• Fatigue and changes in sleep/appetite.
• Anxiety Disorders:
• Excessive worry or fear.
• Panic attacks.
• Obsessive-compulsive behaviors.
• Schizophrenia:
• Delusions and hallucinations.
• Disorganized thinking.
• Impaired social functioning.
• Bipolar Disorder:
• Periods of mania (elevated mood) and depression.
• Energy fluctuations.
• Impaired judgment.

50. CAUSES
• Biological factors (genetics, brain chemistry).
• Environmental factors (trauma, stress).
• Combination of genetics and environment.

52. DIAGNOSTIC TOOLS:
• Clinical interviews and psychological assessments.
• DSM-5 criteria for specific disorders.
• Collaboration between mental health professionals.

53. TREATMENT
• Psychotherapy:
• Cognitive-behavioral therapy (CBT).
• Psychodynamic therapy.
• Medications:
• Antidepressants.
• Antianxiety medications.
• Antipsychotics.
• Hospitalization:
• • For severe cases or crisis intervention.
• Community Support:
• Support groups.
• Rehabilitation programs.
• Social services.