Wednesday, September 27, 2006

Anemia - lecture for an internal medicine resident

ANEMIA

- check reticulocyte count

1) increased

survival defects
hemolysis
hemoglobinopathies

2) decreased

normal morphology
chronic disease
CKD
aplastic anemia

hypochronic microcytic
iron deficiency
thalassemia

macrocytic(megaloplastic)
B12/folate deficiency

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Reticulocytes are immature red blood cells, typically comprising about 1% of the red cells in the human body. Reticulocytes develop and mature in the bone marrow.

They are called reticulocytes because of a reticular (mesh-like) network of RNA that becomes visible under a microscrope with certain stains. They appear slightly bluer than other red cells when looked at with the normal Romanowsky stain. Reticulocytes are also slightly larger, which can be picked up as a high MCV (mean corpuscular volume) with a full blood count done by machine.

To accurately measure reticulocyte counts, automated counters that use lasers mark cell samples with fluorescent dye that marks RNA and DNA. This distinguishes reticulocytes as the middle ground of dye response to laser light, between red blood cells (which have neither RNA nor DNA) and lymphocytes (which have a large amount of DNA, unlike reticulocytes).

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Hemolytic anemia is anemia due to hemolysis, the abnormal breakdown of red blood cells either in the blood vessels (intravascular hemolysis) or elsewhere in the body (extravascular). It has numerous possible causes, ranging from relatively harmless to life-threatening. The general classification of hemolytic anemia is either acquired or inherited. Treatment depends on the cause and nature of the breakdown.

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Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Most common hemoglobinopathies include sickle-cell disease and thalassemia.

Most clinically significant hemoglobinopathies cause mild to acute anemia, in rare cases hemolytic anemia. Symptoms vary for the different diseases: in sickle cell disease the red blood cells tend to assume a different shape under anaerobic conditions, leading to organ damage and circulatory problems, while in thalassemia there is ineffective production of red blood cells (erythropoiesis).

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Chronic renal failure (CRF, or "chronic kidney failure", CKF, or "chronic kidney disease", CKD) is a slowly progressive loss of renal function over a period of months or years and defined as an abnormally low glomerular filtration rate, which is usually determined indirectly by the creatinine level in blood serum.

CRF that leads to severe illness and requires some form of renal replacement therapy (such as dialysis) is called end-stage renal disease (ESRD).

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Aplastic anemia is a condition where the bone marrow does not produce enough, or any, new cells to replenish the blood cells.

The term 'aplastic' refers to the inability of the marrow to function properly. Anemia is the condition of having fewer blood cells than normal, or fewer than needed to function properly. Typically, anemia refers to low red blood cell counts, but aplastic anemia patients have lower counts on all three blood cell types: red blood cells, white blood cells, and platelets.


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Iron deficiency (or "sideropenia") is the most common known form of nutritional deficiency. In the human body, iron is present in all cells and has several vital functions -- as a carrier of oxygen to the tissues from the lungs in the form of hemoglobin, as a facilitator of oxygen use and storage in the muscles as myoglobin, as a transport medium for electrons within the cells in the form of cytochromes, and as an integral part of enzyme reactions in various tissues. Too little iron can interfere with these vital functions and lead to morbidity and mortality.

The direct consequence of iron deficiency is iron deficiency anemia. Groups that are most prone to developing this disease are children, and pre-menopausal women.

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Thalassemia (American English) (or thalassaemia in British English), also known as "Cooley's anemia", is an inherited disease of the red blood cells, classified as a hemoglobinopathy. The genetic defect results in synthesis of an abnormal hemoglobin molecule. The blood cells are vulnerable to mechanical injury and die easily. To survive, many people with thalassemia need blood transfusions at regular intervals.

Classification

The thalassemias are classified according to which chain of the globin molecule is affected: in α thalassemia, the production of α globin is deficient, while in β thalassemia the production of β globin is defective. Thalassemia produces a deficiency of α or β globin, unlike sickle-cell disease which produces a specific mutant form of β globin.

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Folate deficiency

Presentation

Diarrhea, loss of appetite, and weight loss can occur. Additional signs are weakness, sore tongue, headaches, heart palpitations, irritability, and behavioral disorders.[1]

Women with folate deficiency who become pregnant are more likely to give birth to low birth weight and premature infants, and infants with neural tube defects.

In adults, anemia is a sign of advanced folate deficiency.

In infants and children, folate deficiency can slow growth rate.

Some of these symptoms can also result from a variety of medical conditions other than folate deficiency. It is important to have a physician evaluate these symptoms so that appropriate medical care can be given.

[edit]

Causes

A deficiency of folate can occur when your need for folate is increased, when dietary intake of folate is inadequate, and when your body excretes (or loses) more folate than usual. Medications that interfere with your body's ability to use folate may also increase the need for this vitamin. [2][3][4][5][6][7]Some research indicates that exposure to ultraviolet light, including the use of tanning beds, can lead to a folic acid deficiency. [1] The evolution of human skin color is partly controlled by the need to have dark skin in the tropics to protect folic acid from ultraviolet light.