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Myelokathexis

Myelokathexis is a congenital disorder of the white blood cells that causes severe chronic leucopenia (white blood cell deficiency) and neutropenia (abnormally low level of Neutrophils or White Blood Cells). Though the disease process has not been understood well enough, the condition refers to the retention of abnormal mature neutrophils and bone marrow. This disorder has been inherited in an autosomal dominant manner. Myelokathexis can also signify degenerative changes and hypersegmentation of bone marrow myeloid cells. In simple words myelokathexis refers to a rare congenital neutropenia. This condition arises due to the impaired release of granulocytes from the bone marrow. It is more to do with disorders caused by abnormalities in genes or chromosomes. This condition is usually present from birth.


Symptoms of Myelokathexis

The following symptoms are largely reported in people suffering from myelokathexis
Recurring infections
Neutropenia
Abnormal neutrophils
Fatigue
Hyper plastic changes in bone marrow
Weight loss
Shortness of breath


The disease can be diagnosed with blood tests and bone marrow test. Bone marrow transplantation and GM CSF - granulocyte colony stimulating factor and GM CSF - granulocyte macrophage colony stimulating factor are used in treating this condition


Complete Blood Count

A Complete Blood Count test CBC is a diagnostic test to measure the following in blood - the number of red blood cells, the number of white blood cells, Platelets and the total amount of hemoglobin in blood. Hematocrit (HCT) is the fraction of blood composed of red blood cells.


A Complete Blood Count normally includes the following components:

  • Red Blood Cell Count (RBC) (also known as Erythrocyte Count)
  • Red Blood Cell Indices : MCV (Mean Corpuscular Volume), MCH (Mean Corpuscular Hemoglobin) and MCHC (Mean Corpuscular Hemoglobin Concentration)
  • Hemoglobin (Hgb)
  • Hematocrit ( HCT)
  • White Blood Cell count (WBC or leukocyte count)
  • Platelet count (thrombocyte count)

A CBC test provides information on measurements such as average red blood cell size or MCV, Hemoglobin per blood cell or Mean Corpuscular Hemoglobin MCH, hemoglobin concentration or the amount of hemoglobin relative to the size of the cell, per red blood cell or MCHC and platelet count.



Why Complete Blood Count test?

This is a complete lab test and is used to detect or monitor different health conditions. A doctor may require this test for various reasons: As a routine check up

If the patient exhibits symptoms such as fatigue, weight loss, fever or any other signs of infection, weakness, bruising, bleeding or signs of cancer

Blood count results may change if you are receiving treatment for medicines and radiation

To monitor any chronic health problem that can change your blood count results such as chronic kidney disease.


Results of CBC

Though blood count may vary with altitude, in general the normal ranges are given below. But it should be noted that these ranges may vary slightly from one laboratory to another. Various laboratories use varied measurements or test different samples. It is best to have it interpreted by a health care provider.


Normal Values:

Red blood cell indices:

MCV (Mean Corpuscular Volume): 80 to 95 femtoliter
MCH (Mean Corpuscular Hemoglobin): 27 to 31 pg/cell
MCHC (Mean Corpuscular Hemoglobin Concentration): 32 to 36 gm/dL


RBC (erythrocyte) count:

Male: 4.7 to 6.1 million cells/mcL
Female: 4.2 to 5.4 million cells/mcL


WBC (leukocyte) count:

4,500 to 10,800 cells/mcL


Hematocrit:

Male: 40.7 to 50.3%
Female: 36.1 to 44.3%


Hemoglobin:

Male: 13.8 to 17.2 gm/dL
Female: 12.1 to 15.1 gm/dL


Platelet (thrombocyte) count:

150,000 to 450,000/dL


What abnormal results mean?

An abnormal result means elevated RBC, hemoglobin or Hematocrit. These may be due to various factors including lack of adequate water and fluids due to severe diarrhea, excessive sweating or if diuretics are used to treat hypertension.


Low RBC, hemoglobin or hematocrit is also a sign of which result due to blood loss on account of heavy menstrual periods over long periods of time, bone marrow failure from radiation, infection or tumor, Hemolysis or breakdown of red blood cells, chronic kidney disease, ulcerative colitis or rheumatoid arthritis, leukemia, multiple myeloma, long term infections such as hepatitis, poor diet and nutritional deficiencies of iron, Vitamin B6, Vitamin B12 and folate.

High levels of Hematocrit can be the result of dehydration, diarrhea, erythrocytosis or myeloproliferative disorders such as Polycythemia Vera.


Lower than normal white blood cell count, or Leukopenia (Leucopenia), can be the result of alcohol abuse and liver damage, autoimmune diseases, bone marrow failure due to infection, tumor, radiation or fibrosis, chemotherapy medicines, disease of liver or spleen, enlarged spleen, infections caused by viruses such as AIDS or medications.


High WBC count is called leukocytosis which can result from certain medicines such as corticosteroids, infections, diseases such as rheumatoid arthritis or allergy, leukemia and severe emotional and physical stress, tissue damage


High platelet count may be due to bleeding - diseases such as cancer, iron deficiency, problems with the bone marrow.


Low platelet count may be due to anemia, disorders where platelets are destroyed during pregnancy, enlarged spleen, bone marrow failure (for example, due to infection, tumor, radiation, or fibrosis), Chemotherapy medicines used to treat cancer.


Disease of the platelets is known as Thrombocytopathy, which could be due to lower Platelet counts (a condition called as Thrombocytopenia or Thrombopenia), or due to a decrease in function (called as Thrombasthenia) or an increase in the number of platelet (addressed as Thrombocytosis). Normal platelet counts do not necessarily indicate normal functioning. In some cases the platelet counts may appear normal but the platelets themselves are dysfunctional. Aspirin inhibits cyclooxygenase-1 (COX1) which results in the disruption of platelet function affecting coagulation. Normal platelet function will be restored only when the affected platelets have been replaced which can take a week.

Precaution : At the time of drawing the blood, it is necessary to clean the venipuncture site with alcohol.



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Bibliography / Reference

Collection of Pages - Last revised Date: August 24, 2019