Fanconi Anemia (FA): Bone Marrow Failure

Otherwise known as G6PD deficiency, people with an extreme case of this illness would experience hemolytic anemia, fever, and fatigue after eating fava beans or take drugs like primaquine. This is due to the fact that people with favism lack sufficient amount of the enzyme G6PD, which is important for protecting cells from chemical elements that would otherwise destroy the cells. The substances mentioned above act as the catalysts for the production of free radicals (un-paired electrons). As these un-paired electrons seek to pair with electrons in red blood cells with deficient amount of G6PD, it causes the cell membranes to burst. The loss of red blood cells when left untreated can cause the person to have kidney failure, heart failure, and death. As of now, there is no treatment for G6PG

Pernicious anemia is the etiology of vitamin B12 deficiency due to the lack of production of an intrinsic factor (IF), altered pH in the small intestine, and lack of absorption of B12 complexes in the terminal ileum as well as folic acid deficiency. Impairment of IF production can occur in adults due to autoimmune destruction of parietal cells, which secrete IF; gastrectomy can significantly reduce the production of IF. A rare congenital autosomal recessive disorder can result in deficiency of IF without gastric atrophy. Other disorders that interfere with the absorption and metabolism of vitamin B12 can produce cobalamin deficiency, with the development of a macrocytic anemia and neurologic complications. Some autoimmune diseases such as Graves' disease, Hashimoto's thyroiditis and vitiligo the depigmentation or blanching of skin areas. (Center Disease Control &Prevention (CDC), 2015)

Favism disease, also known by its more scientific name of Glucose 6 Phosphate Dehydrogenase Deficiency, is just that. Affecting 400 million people in the Mediterranean and Africa, it is an inherited enzyme deficiency that is caused by a genetic mutation, where the body lacks a kind of glucose, specifically Glucose 6 Phosphate Dehydrogenase (G6PD) in the blood. G6PD is prevalent in every cell of the body, especially in red blood cells, where it cleans up free radicals in the cells. Free radicals are chemical elements looking to pair up with other chemicals, but can cause chemical reactions within cells that cause premature cell death. Free radicals disrupt cellular chemistry, and are thought to be a major cause of aging. In a normal body, there

Diamond-Blackfan Anemia (DBA) is a bone marrow disorder which typically causes low red blood cell counts without affecting other blood components such as white blood cells or platelets. About half of people affected have an assortment of birth defects such as craniofacial abnormalities, limb abnormalities, and cardiac defects. Other common signs of DBA are infants born with only 11 ribs, an abnormality of genitals or urinary system or missing thumbs. DBA is usually identified in infants by low birth weight and a delay in growth. Infants born with DBA are much more likely to get leukemia than those born without. DBA is caused by an inherited

The most common type of anemia overall is iron deficiency anemia, which is most often microcytic. Much rarer causes (apart from communities where these conditions are prevalent)are hemoglobinopathies such as sickle cell anaemia and thalassemia.

Favism is one of the most common inherited enzyme deficiency where, 400 million people suffer from it. People who have favism and eat fava beans experience anemia that can often lead to death. Favism directly affects the circulatory system because many red blood cells are destroyed.

Doreen Flynn is a mother of five children living in Maine. Three of her girls, Jordan, Jorja, and Julia, have a severe form of a life threatening disease called Fanconi anemia. Fanconi anemia is a recessive genetic disorder that interferes with normal blood cell production and causes deficiencies with organ growth. A victim will often have abnormalities in the heart, lungs, bones, spine, kidneys, eyes and ears from the lack of healthy blood. It also puts he or she at an extremely high risk for developing several different types of cancer. Medications and hormone therapy can be used to help a child survive for a while, but ultimately, a bone marrow transplant is needed.

Favism, a condition affecting around 400 million people worldwide is an enzyme deficiency. This enzyme is glucose-6-phosphate dehydrogenase or G6PD. G6PD is important because it prevents blood cells from getting destroyed by chemical elements. When a person has G6PD deficiency their blood cells break down causing a loss of red blood cells. People with G6PD deficiency is also likely to be diagnosed with hemolytic anemia which is the result of the early breakdown of red blood cells. Hemolytic anemia can cause weakness, fatigue and if it is left untreated kidney failure, heart failure, and possibly

It is usually due to deficiency of vitamin B12 or folic acid. Less often, it

If you receive two of the abnormal HFE genes from the combination of your parents then you may develop hemochromatosis, you would also be a carrier for future generations. If you only receive one mutated gene than you would become what is known as a carrier. The result of the genetic mutation are the symptoms of joint pain, abdominal pain, fatigue, and

There are several treatments that can be done in order to alleviate the damages done by fanconi anemia.

Anemia is when you have lower number of red blood cells. Anemia of Chronic Disease is a common cause of anemia of an underlying condition that is associated with different disorders or diseases. Anemia of chronic disease is mostly mild or moderate, but in some cases it can be severe in which causes serious complications. The underlying condition or illness can be like lupus erythematous, rheumatoid arthritis, ulcerative colitis, Crohn disease cancer like lymphoma and Hodgkin disease. Also chronic infections like endocarditis, osteomyelitis, HIV/ADS, hepatitis B can cause Anemia of chronic disease. Anemia of chronic disease symptoms include like fatigue, feeling weak or tired, headache, paleness, shortness of breath…etc. Red blood cells count,

Thalassaemia is an anaemic blood disorder caused by inherited deficiency of alpha- or beta-globin synthesis in the production of haemoglobin, a major constituent of erythrocytes (Mosby 2012 p.1760). Although the disorder is now known to affect many individuals and has a vast global distribution, the word ‘thalassaemia’ originally derived from Greek roots for ‘the sea’ and ‘blood’, under the mistaken belief that it was confined to the Mediterranean region (Weatherall 2001, p.1). The disorder was discovered in 1925, when American paediatricians, Cooley and Lee, described a form of anaemia in children of Italian and Greek origin. They termed this form of anaemia ‘Cooley’s anaemia’. Coincidently in the same year in Italy, Rietti discovered a

Pernicious anemia, or can be called as B12 deficiency anemia, Addison’s anemia, Biermer’s anemia, or Addison-Biermer’s anemia, which is a human body issue that the human body can’t produce enough healthy red cells because lacking of Vitamin b12.

Abnormalities on one or both of the genes cause the disorder. The strength of the condition is determined by the damage of the mutation gene in the body and the amount of beta globin genes that carry a mutation called Thalassemia minor, which is also known by a Thalassemia trait. The Thalassemia trait is caused by a missing or abnormality on only one beta globin gene. Diseased individuals generally have no symptoms, though some may develop a mild anemia. However, they can pass the abnormal gene to their children. Thalassemia Intermediate is when both beta globin genes become mutated. These gene abnormalities are less dangerous than Thalassemia major gene abnormalities mostly. These individuals usually have mild to moderate anemia and they develop some of the complications seen in Thalassemia major, such as bone abnormalities or an enlarged spleen. Many affected people require more frequent blood transfusions in order to reduce the risk of complications. Thalassemia major is arguably the most severe form and is the product of damaging mutations on both beta globin protein genes. It also is commonly known by Cooley's anemia, named after the doctor who first identified it in 1925. Most affected individuals appear healthy at birth. However, during the first year or two of life, they become have a poor appetite and become pale. They do not grow