Fanconi Anemia (FA): Bone Marrow Failure

AAT deficiency is caused by a genetic defect (gene mutation). The gene mutation is passed from parent to child (inherited). The disease typically develops only if a person inherits the defective gene from each parent.

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

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

This is very likely to determine whether Nikoleta’s abnormal red blood cell color and shape is part of a family history. It also notes that both parents have mild hypochromia and macrocytic anemia.

Each human being has two copies of CFTR gene. To have CF, a person must inherit two copies of the mutated CFTR gene, one changed copy of the gene from each parent. The parents are carriers of the disease if they have one normal gene and the other affected but they don’t have the disease themselves, they are called asymptomatic. In the case where, both parents are carriers, there are 50% chances of the offspring to be carrier of the disease, 25% chance of having the disorder and a quarter of chance of being neither diseased nor being carrier. If one of the parents have this disease and their spouse is a carrier than there is a 50% chance of the offspring having the disease. (CF Genetics: The Basics,

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

The same thing also happened with soldiers of Mediterranean descent. It was only in 1956 that medical researchers found that the cause of the deadly reaction to the drugs was a G6PD deficiency that all the soldiers who had developed anemia shared. The G6PD gene in the X chromosome is responsible for the deficiency. Men are much more susceptible to the deficiency than women because women require the mutation on both X Chromosomes while men only have one. There are more than 100 possible mutations of this gene. The normal versions of the gene are G6PD-B and G6PD-A+. The mutations are split into two major categories, one of which originated in Africa called G6PD-A- and one originating in the Mediterranean called G6PD-med. These mutations can be dangerous when a bunch of free radicals enter the blood and blood cells and there is a lack of G6PD to take care of it. Triggers of Favism disease can range from infections and medicine such as primaquine, yet the most common trigger is Fava beans, which are the disease’s namesake. Interestingly enough, Favism is most common where Fava beans are cultivated. Surprisingly, Favism is an evolved natural protection against the disease which is the biggest killer of humans per

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)

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.

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

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.

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

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

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.