Genetic Disorders, Powerpoint Presentation

SICKLE CELL DISEASE: 

SICKLE CELL DISEASE JUAN ALBERTO MELGAR JANUARY, 18, 2012 Mrs. HOLLY OLIVA

HISTORY : 

HISTORY THIS COLLECTION OF CLINICAL FINDINGS WAS UNKNOWN UNTIL THE EXPLANATION OF THE SICKLE CELLS IN 1910 BY THE CHICAGO CARDIOLOGIST AND PROFESSOR OF MEDICINE JAMES B. HERRICK (1861-1954),WHOSE INTERN ERNEST EDWARD IRONS (1877-1959) FOUND “PECULIAR ELONGATED AND SICKLE SHAPED” CELLS IN THE BLOOD OF WALTER CLEMENT NOEL,A 20 YEAR OLD FIRST-YEAR DENTAL STUDENT FROM GRENADA,AFTER NOEL WAS ADMITTED TO THE CHICAGO PRESBYTERIAN HOSPITAL IN DECEMBER 1904 SUFFERING FROM ANAEMIA. THE DISEASE WAS NAMED “SICKLE CELL ANEMIA” BY VERNE MASON IN 1922. LINUS PAULING AND COLLEAGUES WERE THE FIRST, IN 1949, TO DEMONSTRATE THAT SICKLE CELL DISEASE OCCURS AS A RESULT OF AN ABNORMALITY IN THE HEMOGLOBIN MOLECULE.

Dr. James B. Herrick : 

Dr. James B. Herrick In 1910, Dr. James B. Herrick, a physician at Presbyterian Hospital and professor of medicine at Rush Medical College in Chicago, Ill., published an article on the case of an anemic West Indian dental student, Walter Clement Noel. Herrick's laboratory findings of the patient's"peculiar elongated and sickle-shaped" red blood cells were the first description of sickle cell disease in Western medical literature.

FOUNDATIONS AND ORGANIZATIONS HAVE BEEN ESTABLISHED TO GIVE SUPPORT TO THOSE AFFECTED BY SICKLE DISEASE AND THEIR FAMILIES: : 

FOUNDATIONS AND ORGANIZATIONS HAVE BEEN ESTABLISHED TO GIVE SUPPORT TO THOSE AFFECTED BY SICKLE DISEASE AND THEIR FAMILIES: SICKLE-CELL DISEASE ASSOCIATION OF AMERICA, PHILADELHIA DELAWARE VALLEY CHAPTER SICKLE-CELL DISEASE FOUNDATION OF CALIFORNIA,LOS ANGELES THE AMERICAN SICKLE CELL ANEMIA ASSOCIATION (ASCAA). THE SICKLE CELL FOUNDATION SUPPORT GROUP, INC. Email: info@sicklecellsupportgroup.org

DIAGNOSIS : 

DIAGNOSIS SIGNS AND SYMPTOMS OF SICKLE CELL DISEASE USUALLY BEGIN IN EARLY CHILDHOOD.CHARACTERISTICS FEATURES OF THIS DISORDER INCLUDE A LOW NUMBER OF RED BLOOD CELLS (ANEMIA), REPEATED INFECTIONS, AND PERIODIC EPISODES OF PAIN. THE SEVERITY OF SYMPTOMS VARIES FROM PERSON TO PERSON. ANEMIA CAN CAUSE SHORTNESS OF BREATH, FATIGUE, AND DELAYED GROWTH AND DEVELOPMENT IN CHILDREN. ALSO CAUSE YELLOWING OF THE EYES AND SKIN.ORGANS CAN BE DAMAGED ESPECIALLY LUNGS, KIDNEYS, SPLEEN, AND BRAIN. PULMONARY HYPERTENSION OCCURS IN ABOUT ONE THIRD OF ADULTS WITH SICKLED CELL DISEASE AND CAN LEAD TO HEART FAILURE.

DIAGNOSIS : 

DIAGNOSIS SICKLE CELL DISEASE AFFECTS MILLIONS OF PEOPLE WORLDWIDE.IT IS MORE COMMON AMONG PEOPLE WHOSE ANCESTORS COME FROM AFRICA; MEDITERRANEAN COUNTRIES SUCH AS GREECE,TURKEY AND ITALY; THE ARABIAN PENINSULA; INDIA, AND SPANISH SPEAKING REGIONS IN SOUTH AMERICA,CENTRAL AMERICA AND PARTS OF THE CARIBBEAN. SICKLE CELL DISEASE IS THE MOST COMMON INHERITED BLOOD DISORDER IN THE UNITED STATES, AFFECTING 70,000 TO 80,000 AMERICANS.THE DISEASE IS ESTIMATED TO OCCUR IN 1 IN 500 AFRICAN AMERICANS AND 1 IN 1,000 TO 1,400 HISPANIC AMERICANS.

Disease/Sickle Cell Anemia: 

Disease / Sickle Cell Anemia

RED BLOOD CELLS: 

RED BLOOD CELLS RED BLOOD CELL SICKLE CELL RED BLOOD CELL MULTIPLE SICKLE CELL RED BLOOD CELLS NORMAL

CAUSE: 

CAUSE MUTATIONS IN THE HBB GENE CAUSE SICKLE CELL DISEASE. THIS CONDITION IS INHERITED IN AN AUTOSOMAL RECESSIVE PATTERN, WHICH MEANS BOTH COPIES OF THE GENE IN EACH CELL HAVE MUTATIONS. THE PARENTS OF AN INDIVIDUAL WITH AN AUTOSOMAL RECESSIVE CONDITION EACH CARRY ONE COPY OF THE MUTATED GENE, BUT THEY TIPICALLY DO NOT SHOW SIGNS AND SYMPTOMS OF THE CONDITION.

TREATMENT : 

TREATMENT BONE MARROW TRANSPLANT IS THE ONLY KNOWN CURE FOR SICKLE CELL DISEASE. TRANSPLANTS ARE RISKY PROCEDURES AND CURRENTLY ARE AN OPTION ONLY FOR A CAREFULLY SELECTED SUBSET OF PATIENTS WITH SEVERE COMPLICATIONS. BUT EVEN WITHOUT A CURE, KIDS WITH SICKLE CELL DISEASE CAN LEAD RELATIVELY NORMAL LIVES. PENICILLIN ISN’T A CURE, IT CAN HELP PREVENT LIFE- THREATENING INFECTIONS DUE TO BACTERIA THAT CAUSE SERIOUS INFECTIONS IN THE BLOOD, MENINGITIS, AND PNEUMONIA.

TREATMENT : 

TREATMENT TRANSFUSIONS OF RED BLOOD CELLS ARE USED TO PREVENT OR TREAT COMPLICATIONS SUCH AS ACUTE CHEST SYNDROME, SEVERE ANEMIA, OR STROKE. IN 1998 THE U.S. FOOD AND DRUG ADMINISTRATION (FDA) APPROVED THE DRUG HYDROXYUREA FOR USE IN ADULTS WITH SICKLE CELL DISEASE, WHILE IT STILL HAS NOT BEEN OFFICIALLY APPROVED FOR USE IN CHILDREN,IT IS NOW COMMONLY USED BY PEDIATRIC SPECIALISTS IN CERTAIN CIRCUMSTANCES. THIS DRUG HELPS DECREASE THE FRECUENCY AND INTENSITY OF PAINFUL EPISODES AND OTHER COMPLICATIONS IN KIDS AND ADULTS.

PREVENTING CRISIS : 

PREVENTING CRISIS TO PREVENT OXYGEN LOSS,AVOID: DEMANDING PHYSYCAL ACTIVITY. EMOTIONAL STRESS, SMOKING, KNOWN SOURCES OF INFECTION TO GET ENOUGH FLUIDS: AVOID TOO MUCH EXPOSURE TO THE SUN, HAVE FLUIDS ON HAND, BOTH AT HOME AND AWAY, AND RECOGNIZE SIGNS OF DEHYDRATION.

PREVENTING CRISIS: 

PREVENTING CRISIS TO AVOID INFECTION: CONSIDER HAVING THE CHILD WEAR A MEDIC ALERT BRACELET, HAVE THE CHILD VACCINATED AS RECOMMENDEDBY THE HEALTH CARE PROVIDER. SHARE THE ABOVE INFORMATION WITH TEACHERS AND OTHER CARETAKERS, WHEN NECESSARY. BE AWARE OF THE EFFECTS THAT CHRONIC, LIFE THREATENING ILLNESSES CAN HAVE ON SIBLINGS, MARRIAGES, PARENTS, AND THE CHILD.

WEBSITES : 

WEBSITES http//www.kidshealth.org/parents/medical problems http//www.sicklecellanemia http//www.sickle-cell disease.wikipedia.org http//www.sicklecelldisease.org

THANKS: 

THANKS