Mutations and Genetic Diseases by Michelle Benton https://padlet.com/12083950/rgsccyndctzq8bcs 3 different types en-us 2020-10-01 01:54:25 UTC 2025-11-22 18:37:31 UTC hello@padlet.com WHAT IS IT? 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793404275 Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints]]> 2020-10-01 01:57:29 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793404275 CAUSES 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793404704 HFE gene, C282Y, H63D, C282Y is the most important, When C282Y is inherited from both parents, iron is absorbed in the intestine from the diet and hemochromatosis can result.]]> 2020-10-01 01:57:56 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793404704 SYMPTOMS 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793405355 Early symptoms may include extreme tiredness (fatigue), joint pain, abdominal pain, weight loss, and loss of sex drive. As the condition worsens, affected individuals may develop arthritis, liver disease (cirrhosis) or liver cancer, diabetes, heart abnormalities, or skin discoloration]]> 2020-10-01 01:58:32 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793405355 INCIDENCE 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793405838 Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide.]]> 2020-10-01 01:58:59 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793405838 INHERITANCE 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793406275 Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern. Type 4 hemochromatosis is distinguished by its autosomal dominant inheritance pattern. ]]> 2020-10-01 01:59:23 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793406275 DIAGNOSIS 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793407015 Several blood tests are needed to diagnose haemochromatosis. You'll have tests to check: the amount of iron in your blood and the amount of iron stored in your body 

]]> 2020-10-01 02:00:05 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793407015 TRREATMENT 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793407465  phlebotomy to remove the iron, *Weekly therapeutic phlebotomy of 500 mL of whole blood (equivalent to approximately 200-250 mg of iron), Performed until iron-limited erythropoiesis develops, early dx is essential, avoid iron supplements, patient avoid or limit ETOH.]]> 2020-10-01 02:00:31 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793407465 DISCOVERY 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793407950 The gene that causes hereditary hemochromatosis, called HFE, was identified on chromosome 6 in 1996.]]> 2020-10-01 02:01:01 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793407950 SUPPORT 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793408733 The American Hemochromatosis Society (AHS) is a 501(c)(3) non-profit organization dedicated to educating the public, medical community and media by distributing the most current information available on hereditary hemochromatosis (HH).]]> 2020-10-01 02:01:48 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793408733 PROMOTION 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793409109 N/A]]> 2020-10-01 02:02:11 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793409109 WHAT IS IT? 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793410115 A genetic disorder based on a single point mutation in which RBC's take the shape of a sickle cell.]]> 2020-10-01 02:03:13 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793410115 CAUSES 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793410905 Defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent. If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.]]> 2020-10-01 02:04:01 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793410905 SYMPTOMS 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793411385 Painful swelling of the hands and feet, Fatigue or fussiness from anemia, A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)]]> 2020-10-01 02:04:27 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793411385 INCIDENCE 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793411933 SCD affects approximately 100,000 Americans. SCD occurs among about 1 out of every 365 Black or African-American births. SCD occurs among about 1 out of every 16,300 Hispanic-American births. About 1 in 13 Black or African-American babies is born with sickle cell trait]]> 2020-10-01 02:05:00 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793411933 INHERITANCE 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793412342 Sickle cell anemia is inherited in an autosomal recessive pattern]]> 2020-10-01 02:05:22 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793412342 DIAGNOSIS 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793413099 Hematocrit test]]> 2020-10-01 02:06:08 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793413099 TREATMENT 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793413577 Antibiotics to try to prevent infections in younger children, Pain relievers for acute or chronic pain, Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy, Childhood immunizations to prevent infections, Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.]]> 2020-10-01 02:06:38 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793413577 DISCOVERY 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793414068  In summary, in 1910, Herrick described an anemia characterized by bizarre, sickle-shaped cells. The role of deoxygenation was discovered in the 1920's by Hahn and Gillespie. The hereditary nature of the disease was suspected but not demonstrated until 1949 by Dr. James V.]]> 2020-10-01 02:07:09 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793414068 SUPPORT 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793414759 Sickle Cell Disease Association of America, Inc]]> 2020-10-01 02:07:48 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793414759 PROMOTION 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793415198 September is Sickle Cell Awareness month]]> 2020-10-01 02:08:17 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793415198 WHAT IS IT? 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793422205 Malignant tumor that has developed from cells in the breast. Cancer cells grow out of control and invades surrounding tissues/ metastasizing distant areas of the body]]> 2020-10-01 02:15:06 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793422205 CAUSES 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793422580 Those who have inherited mutations in their BRCA1 and BRCA2 genes have a high risk of developing breast cancer.]]> 2020-10-01 02:15:27 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793422580 SYMPTOMS 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793423924 Most common symptom is a new lump or mass, Women- behind areola or in the upper, outer quadrant, Men- behind areola, Skin irritation or dimpling, Swelling of all or part of a breast, Lump in the underarm area, Pain, Nipple retraction, Redness, scaliness, or thickening of the nipple, Nipple discharge ( other than breast milk)]]> 2020-10-01 02:16:45 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793423924 INCIDENCE 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793424502 About 1 in 8 U.S. women (about 12%) will develop invasive breast cancer over the course of her lifetime.]]> 2020-10-01 02:17:16 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793424502 INHERITANCE 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793424800 Mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern]]> 2020-10-01 02:17:33 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793424800 DIAGNOSIS 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793425326 Breast exam. Your doctor will check both of your breasts and lymph nodes in your armpit, feeling for any lumps or other abnormalities, Mammogram, Removing a sample of breast cells for testing (biopsy), Breast magnetic resonance imaging (MRI).]]> 2020-10-01 02:18:02 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793425326 TREATMENT 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793425973 Surgery. An operation where doctors cut out cancer tissue, Chemotherapy. Using special medicines to shrink or kill the cancer cells. The drugs can be pills you take or medicines given in your veins, or sometimes both, Hormonal therapy. Blocks cancer cells from getting the hormones they need to grow, Biological therapy. Works with your body’s immune system to help it fight cancer cells or to control side effects from other cancer treatments.
Radiation therapy. Using high-energy rays (similar to X-rays) to kill the cancer cells.
]]> 2020-10-01 02:18:38 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793425973 DISCOVERY 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793426271 The first mention of cancer of any kind was a case of breast cancer documented in Egypt around 1600 BC. The Edwin Smith Papyrus, an ancient text found in 1860 in an Egyptian tomb, described eight cases of tumors or ulcers of the breast.]]> 2020-10-01 02:18:57 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793426271 SUPPORT 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793426616  American Breast Cancer Foundation]]> 2020-10-01 02:19:20 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793426616 PROMOTION 12083950 https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793426868 Wanda Sykes, Robin Roberts, Christina Agglegate. October is Breast Cancer Awareness Month]]> 2020-10-01 02:19:37 UTC https://padlet.com/12083950/rgsccyndctzq8bcs/wish/793426868