H: Progeria - Klinefelter -Triple X - Fragile X -Thalassemia

• Progeria (Hutchinson-Gilford progeria syndrome):

  • Extremely rare, progressive genetic disorder
  • Causes children to age rapidly, starting in their first two years of life
  • Average life expectancy is about 15 years
  • Symptoms include distinctive appearance and health issues such as cardiovascular disease, skin hardening, and insulin resistance
  • Caused by a change in the lamin A (LMNA) gene, leading to the production of progerin protein
  • Rarely passed down in families, usually happens by chance
• • No known lifestyle or environmental risk factors, but age of the father may be a possible risk factor
• Klinefelter Syndrome:

  • Fairly common genetic condition in males
  • Boys and men born with an extra X chromosome
  • Symptoms may include breast growth, infertility, osteoporosis, and learning difficulties
  • Treatments involve physical and emotional therapy, hormone replacement
  • Not caused by parental actions, but a random error in cell division
  • Boys with KS may have learning or language problems, affecting social interactions and fertility
• Fragile X Syndrome (FXS):

  • Genetic disorder caused by changes in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene
  • Affects brain development by not producing the FMRP protein
  • Symptoms include developmental delays, learning disabilities, and social/behavioral problems
  • Affects both males and females, with females often having milder symptoms
• Triple X Syndrome (Trisomy X):

  • Genetic disorder affecting about 1 in 1,000 females
  • Females have three X chromosomes
  • Symptoms include delayed development of speech and language skills, learning disabilities, behavioral problems
  • Females may be taller than average, with no unusual physical features
• Thalassemia:

  • Inherited blood disorder caused by insufficient hemoglobin production
  • Red blood cells don't function properly, leading to anemia symptoms
  • Passed from parents through mutated hemoglobin genes
  • Common in African Americans, Mediterranean, and Southeast Asian descent
  • Symptoms of anemia include fatigue, dizziness, shortness of breath, fast heart rate, headache, leg cramps, difficulty concentrating, and pale skin