Methemoglobin: An Unlikely Explanation for Cyanosis Methemoglobinemia is an uncommon but possible

Megaloblastic anemia is associated with megaloblastosis, a condition in which cells cannot divide properly caused by a defect in DNA synthesis. The cause for abnormal DNA synthesis is caused by vitamin B12 (cobalamin) or folic acid deficiencies, medications that interfere with the DNA synthesis processes. (Schick, P., 2014)

As the concentration of hemoglobin in the Red Blood Cells falls below normal, the total Red Blood Cell count consequently decreases. Therefore, oxygen cannot be adequately carried. (http://www.mayohealth.org/mayo/pted/htm/iron.htm).

There are two types of hemochromatosis, primary and secondary. Primary hemochromatosis is a genetic disorder passed down through families. It occurs at birth. People with this condition absorb too much iron through their digestive tract. Iron builds up in the body, especially the liver. You are more likely to get this disease if someone else in your family has or had the condition. Secondary hemochromatosis is due to other blood-related disorders such as thalassemia or certain anemia’s. Sometimes it occurs in people with long-term alcoholism and other health conditions.

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can lead to “liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders[, ...] cancer” (p. 13) and, in the end, death. Although it is more common in some communities than others, today the low-penetrance disease only manifests in 1 in 200 people.

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.

“Erythrocytes contain haemoglobin, an important respiratory pigment that is essential for human life” (Strech, Beryl; Whitehouse, Mary;, 2010) Haemoglobin is very important because it is an iron-containing protein.

Sickle cell crisis is an acute form of sickle cell disease where pain and sickling are extensive (Byar, 2013). SCD is a genetic disease that predominantly affects black people of African decent (Gersten, 2016). Abnormal hemoglobin chains are the main issue with SCD (Byar, 2013). Normal hemoglobin chains are comprised of 99% hemoglobin A (HbA) however, in SCD an abnormal form of the gene, hemoglobin S (HbS) is present in approximately 40% of total hemoglobin (Byar, 2013). In order for a person to be born with SCD, both parents must carry the abnormal gene, HbS (Byar, 2013). HbS is extremely sensitive to the changes in oxygen amount of the RBC and when exposed to decreased oxygen the HbS cause the RBC to distort and become sickle-shaped,

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can cause conditions such as “liver failure, heart failure, diabetes, arthritis,

Transport proteins such as Haemoglobin carry oxygen through the blood. Myoglobin performs a similar function in muscle tissue, taking oxygen from the haemoglobin in the blood and storing it or carrying it around until needed by the muscle cells. The ability of haemoglobin to bind oxygen is sensitive to several factors. They include pH, temperature, concentrations of O2 and CO2. The structure of the haemoglobin changes slightly in a way that makes it better at binding to more oxygen, further enhancing its ability to carry more oxygen. Sickle cell anaemia points out another important aspect of protein structure. The mutation of a base sequence leads to valine being produced instead of glutamic acid, this has a knock on effect on the secondy, tertiary and quaternary structure. All in all the function of Hb is altered and results in the Hb having a “sickled shape” which does not easily pass though capillaries or carry oxygen efficiently. Cytochromes operate in the electron transport chain as electron carrier proteins (fact from Google)

Also known as normocytic anemia. This is the most frequent type of anemia most often happening to males over 85 years old. It is a common problem that occurs to men and women over 85 years old. Symptoms include and are caused by: a reduced production of normal-sized red blood cells even though presence of hemoglobin in the red blood cells is within the standard range; an increased production of HbS as is seen in sickle cell diseases; greater destruction and loss of red blood cells; an increase in plasma volume that is not compensated by anything else; a B2 (riboflavin) deficiency; and a B6 (pyridoxine) deficiency. (Brill & Baumgardner 2000).

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)

These anomalies can happen when each parent passes down heredity chromosomes to offspring, in which the mutated gene is present. Chromosome 11 controls the subunit for beta globin. Sickle cell anaemia modifies chromosome 11 as a result of the alteration of the 6th position in the normal beta chain (refer to figure 2). This mutation causes the amino acid, glutamic acid, to be replaced with valine, which causes the sickle cell disorder. This base change alters the biconvex structure of the haemoglobin (red blood cells) to a crescent shape at low oxygen levels. These unnatural crescent-shaped haemoglobin can easily cause blockages in small blood vessels and arteries, which stops or slows the flow of blood to nearby tissues. Depending on if one or two beta globin are affected by the mutation, the afflicted can either be an autosomal heterozygous carrier (one beta globin) or homozygous recessive (two beta globin).

G6PD deficiency is a genetic disease. G6PD protects red blood cells from potentially harmful substances that can accumulate when a person takes certain medications or when the immune system is fighting an infection. G6PD also helps the body process carbohydrates and turn them into energy.A deficiency in G6PD can cause hemolytic anemia, usually after exposure to certain triggers such as medications, foods, or even infections. Without enough G6PD to protect them, Red Blood Cellss can be damaged or destroyed. Hemolytic anemia occurs when the body sustains too much damage for the bone marrow (soft interior of bones which prodeuces red blood cells) to repair.

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

Investigating haemoglobin (Hb) concentration in blood samples using the haemoglobincyanide method and in foetal haemoglobin samples