Do you know your genotype?

Do you know your genotype? MOST PEOPLE KNOW THEIR GENOTYPE AS AA, AS OR SS. BUT DO YOU REALLY UNDERSTAND WHAT THESE LETTERS ACTUALLY MEAN? AA MEANS A PERSON DOES NOT CARRY THE SICKLE CELL GENE, WHILE AS MEANS A PERSON CARRIES ONLY ONE SICKLE CELL GENE BUT USUALLY DOES NOT HAVE THE DISEASE. WHILE SS IS THE GENOTYPE ASSOCIATED WITH SICKLE CELL DISEASE. HI, I'M DR EMI THOMPSON A MEDICAL LABORATORY SCIENTIST. AND TODAY LET'S SIMPLIFY SICKLE CELL DISEASE AND UNDERSTAND WHAT HAPPENS WHEN A PERSON HAS THE SS GENOTYPE. SICKLE CELL DISEASE IS AN INHERITED BLOOD DISORDER THAT AFFECTS THE HEMOGLOBIN, WHICH IS THE PROTEIN INSIDE YOUR RED BLOOD CELLS THAT CARRIES OXYGEN AROUND THE BODY. NORMALLY, THE RED BLOOD CELLS ARE ROUND AND FLEXIBLE IN SHAPE. BUT IN SICKLE CELL DISEASE, SOME OF THE RED BLOOD CELLS BECOME RIGID AND CRESCENT. WE NORMALLY CALL AS MORE LIKE SICKLE C SHAPES. THESE ABNORMAL CELLS CAN BLOCK SMALL BLOOD VESSELS, REDUCING OXYGEN FLOW TO DIFFERENT PARTS OF THE BODY. SOME OF THE COMMON SYMPTOMS ASSOCIATED WITH THIS MAY INCLUDE EPISODES OF SEVERE PAIN, OFTEN CALLED PAIN CRISIS. ALSO, THE PERSON MAY EXPERIENCE FATIGUE AND WEAKNESS. ANAEMIA, THAT'S IN LAYMAN'S TERMS, IS A SHORTAGE OF BLOOD, SWELLING OF THE HANDS ESPECIALLY IN CHILDREN, AND AN INCREASED RISK OF INFECTIONS. SICKLE CELL DISEASE IS ACTUALLY INHERITED. A PERSON DEVELOPS THE DISEASE WHEN THEY INHERIT A SICKLE CELL GENE FROM BOTH PARENTS. PEOPLE WHO INHERIT ONLY ONE GENE HAVE WHAT IS CALLED THE SICKLE CELL TRAIT, AS. THEY USUALLY DO NOT HAVE THE DISEASE, BUT THEY CAN PASS THE GENE TO THEIR CHILDREN. DOCTORS MAY DIAGNOSE SICKLE CELL DISEASE USING TESTS SUCH AS HAEMOGLOBIN ELECTROPHORESIS. IN THE LAYMAN, WE CALL IT THE GENOTYPE TEST, WHICH IDENTIFIES DIFFERENT TYPES OF THE HAEMOGLOBIN IN THE BLOOD. AND WE ALSO HAVE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY, THAT'S HPLC. THIS IS ANOTHER TEST TO IDENTIFY DIFFERENT HAEMOGLOBIN TYPES. WHILE FURTHER INVESTIGATIONS SUCH AS A COMPLETE BLOOD COUNT MAY BE REQUESTED BY YOUR DOCTOR TO HELP ASSESS ANAEMIA AND OVERALL BLOOD HEALTH FOR THE INDIVIDUAL. WHILE THERE IS NO WIDELY AVAILABLE CURE WITH SICKLE CELL DISEASE, SICKLE CELL TREATMENT CONTINUES TO EVOLVE. AND RECENTLY ADVANCES IN GENE THERAPY NOW ALLOW SPECIALISTS TO TARGET THE UNDERLYING GENETIC CAUSE OF THE DISEASE IN SOME ELIGIBLE PATIENTS, OFFERING NEW POSSIBILITY FOR LONG TERM DISEASE MANAGEMENT AND IMPROVED QUALITY OF LIFE. ALSO TO SUPPORT OVERALL HEALTH, PEOPLE LIVING WITH SICKLE CELL DISEASE SHOULD ENSURE THAT THEY DRINK SUFFICIENT WATER DAILY. SHOULD BE, THEY SHOULD STAY HYDRATED, AVOID EXTREMES OF TEMPERATURE, IS NOT TOO HOT OR TOO COLD. ENSURE THEY ATTEND REGULAR MEDICAL FOLLOW UP APPOINTMENTS, STAY UP TO DATE WITH THEIR VACCINATIONS AND SEEK MEDICAL ATTENTION EARLY WHEN THEY FEEL UNWELL. THIS IS BECAUSE EARLY INTERVENTION AND CONSISTENT CARE REMAIN IMPORTANT FOR CELL MANAGEMENT. AND REMEMBER, YOU YOUR GENOTYPE. LET ME KNOW IN THE COMMENT SECTION. SEE YOU NEXT TIME. BYE.