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ANEMIA IS TYPE OF HEREDITARY DISEASE. IT IS DESCRIBED AS THE


CONDITION IN WHICH THE NUMBER OF RED BLOOD CELLS OR
HAEMOGLOBIN IS LOWER. NORMAL LEVEL OF HAEMOGLOBIN
GENERALLY DIFFERENT IN MALES AND FEMALES.FOR MEN, TYPICALLY
DEFINED AS HAEMOGLOBIN LEVEL OF LESS THAN 13.5GRAM/100ML AND
IN WOMAN AS HAEMOGLOBIN OF LESS THAN 12.0GRAM/100ML. A PERSON
WHO HAS ANEMIA (HAVING A LOW BLOOD COUNT) IS CALLED ANEMIC.
ANY PROCESS THAT CAN DISRUPT THE NORMAL LIFE SPAN OF RED
BLOOD CELLS MAY CAUSE ANEMIA. RED BLOOD CELLS ARE MADE IN
BONE MARROW. THE LIFE SPAN OF RED BLOOD CELLS ARE TYPICALLY
AROUND 120 DAYS. HEREDITARY DISORDER CAN SHORTEN THE LIFE SPAN
OF RED BLOOD CELLS AND LEAD TO ANEMIA. FOR EXAMPLE, SICKLE
CELL ANEMIA. HEREDITARY DISORDER CAN ALSO CAUSE ANEMIA BY
IMPAIRING THE PRODUCTION OF HAEMOGLOBIN. FOR EXAMPLE, ALPHA
THALLASEMIA AND BETA THALLASEMIA. HEREDITARY DISORDER ALSO
CAUSE ANEMIA CHANGING THE SHAPE OF RED BLOOD CELLS.
DEPENDING ON DEGREE OF GENETIC ABNORMALITY, HEREDITARY
ANEMIAS MAY CAUSE MILD, MODERATE OR SEVERE ANEMIA. IN FACT,
SOME MAY BE TOO SEVERE TO BE COMPATIBLE WITH LIFE AND MAY
RESULT IN DEATH OF FOETUS(UNBORN INFANT). ON THE OTHER HAND,
SOME OF THESE ANEMIAS ARE SO MILD THAT THEY ARE NOT
NOTICEABLE AND ARE INCIDENTALLY REVEALED DURING A ROUTINE
BLOOD WORK.
SICKLE CELL IS A TYPICALLY HEREDITARY. CERTAIN HEREDITARY
VARIATIONS IN A PERSONS GENES CAN LEAD TO INCORRECT OR
DECREASED PRODUCTION OF RED BLOOD CELLS. THIS CAN CAUSE RED
BLOOD CELLS TO NOT LAST AS LONG IN THE BLOOD,NOT BE AS
EFFECTIVE TRANSPORTING OF OXCGEN FROM THE LUNGS TO
DIFFERENT PARTS OF THE BODY, OR NOT BE CREATED AT ALL.
THALLASEMIA IS ANOTHER GROUP OF HAEMOGLOBIN-RELATED
CAUSES OF ANEMIA. THERE ARE MANY TYPES OF THALASSEMIA, WHICH
VARY IN SEVERITY.TESE IS ALSO HEREDITARY, BUT THEY CAUSE
QUANTITATIVE HAEMOGLOBIN ABNORMALTIES,MEANING AN
INSUFFICIENT NUMBER OF HAEMOGLOBIN MOLECULE IS MADE.
HEMOCHROMATOSIS IS AN IRON RELATED HEREDITARY CONDITION
IN WHICH THE BODY ABSORBS MORE IRON MORE FROM THE FOOD THAT
IN NEEDS. BECAUSE THERE IS NO WAY FOR THE BODY TO GET RID OF THE
EXCESS IRON, IT IS STORED IN VARIOUS ORGANS LIKE THE LIVER,
HEARTS, AND PANCREAS. IF UNTREATED, THE HIGHER LEVEL OF STORED
IRON CAN CAUSE ORGANS TO BECAME DISEASED. ALSO KNOWN AS IRON
AS IRON OVERLOADED DISEASE, HEMOCHROMATOSIS IS ONE OF
COMMON GENETIC DISORDER.
IN HAEMOLYTIC ANEMIA, THE NORMAL RED BLOOD CELLS SHAPE IS
IMPORTANT FOR ITS FUNCTION. HEMOLYTIC ANEMIA IS ATYPE OF
ANEMIA IN WHICH THE RED BLOOD CELLS RUPTURE(KNOWN AS
HAEMOGLOBIN) AND BECOME DYSFUNCTIONAL. THIS COULD HAPPEN
DUE TO VARIETY OF REASONS. SOME FORMS OF HEMOLYTIC ANEMIA
CAN BE HEREDITARY WITH CONSTANT DESTRUCTION AND RAPID
REPRODUCTION OF RED BLOOD CELLS. THIS DESTRUCTION MAY ALSO
HAPPEN TO NORMAL RED BLOOD CELLS IN CERTAIN CONDITION. FOR
EXAMPLE, WITH ABNORMAL HEART VALVES DAMAGING THE BLOOD
CELLS.
BECAUSE A LOW RED BLOOD CELLS COUNT DECREASES OXYGEN
DELIVERY TO EVERY TISSUE IN BODY, ANEMIA MAY CAUSE MANY SIGNS
AND SYMPTOMS. IT CAN ALSO MAKE ALMOST ANY OTHER UNDERLYING
MEDICAL CONDITION WORSE. IF ANEMIA IS MILD, IT MAY NOT CAUSE
ANY SYMPTOMS.IF ANEMIA IS SLOWLY ONGOING(CHRONIC) , THE BODY
MAY ADAPT AND COMPENSATE FOR THE CHANGE; IN THIS CASE THERE
MAY NOT BE ANY SYMPTOMS UNTIL BECOME MORE SEVERE. SYMPTOMS
OF ANEMIA MAY INCLUDE THE FOLLOWING:FATIGUE, WEAKNESS,
SHORTNESS OF BREATH, LIGHTHEADEDNESS, APPEAR PALE, DEVELOP
PALPITATIONS(FEELING OF HEART RACING), HAIR LOSS,
MALAISE(GENERAL SENSE OF FEELING UNWELL), CHEAST PAIN, ANGINA,
HEART ATTACK, DIZZINESS, FAINTING, PASSING OUT AND RAPID HEART
RATE.
THERE SOME SIGNS THAT MAY INDICATE ANEMIA IN AN
INDIVIDUAL. THERE ARE CHANGE IN STOOL COLOR, INCLUDING BLACK
AND TARRY STOOL(STICKY AND FOUL SMELLING), MAROON-COLORED
OR VISIBLY BLOODY STOOLS, LOW BLOOD PRESSURE, RAPID BREATHING,
PALE/COLD SKIN, YELLOW SKIN CALLED JAUNDICE.HEART MURMUR AND
ENLARGEMENT OF SPLEEN.
AS MENTIONED EARLIER, HAEMOGLOBIN HAS THE IMPORTANT
ROLE OF DELIVERING OXYGEN TO ALL PARTS OF BODY OF
CONSUMPTION AND CARRIES BACK CARBON DIOXIDE BACK TO LUNG TO
EXHALE IT OUT OF THE BODY. IF HAEMOGLOBIN LEVEL IS TOO LOW,
THIS PROCESS MAY BE IMPAIRED, RESULTING IN BODY HAVING LOW
OXYGEN LEVEL(HYPOXIA).
THERE ARE WAYS TO DIAGNOSE ANEMIA. ANEMIA IS USUALLY
DETECTED OR AT LEAST CONFIRMED BY A COMPLETE BLOOD CELL(CBC)
COUNT. CBC TEST MAY BE ORDERED BY A PHYSICIAN AS A PART OF
ROUTINE GENERAL CHECK-UP AND SCREENING OR BASED ON CLINICAL
SIGNS AND SYMPTOMS THAT MAY SUGGEST ANEMIA AND OTHER BLOOD
ABNORMALTIES.
A COMPLETE BLOOD CELL(CBC)COUNT IS ATEST FOR COUNTING
AND EXAMINING THE DIFFERENT TYPES OF CELLS IN THE BLOOD. SI
COMPONENTS MEASUREMENT MAKE UP A CBC TEST ARE RED BLOOD
CELL(RBC)COUNT, HEMATOCRIT, HAEMOGLOBIN, WHITE BLOOD
CELL(WBC)COUNT, DIFFERENTIAL BLOOD COUNT(THE ³DIFF´) AND
PLATELET COUNT.
ONLY THE FIRST THREE OF THESE TESTS: THE RBC COUNT, THE
HEMATOCRIT AND THE HAEMOGLOBIN ARE RELEVANT TO THE
DIAGONESE OF ANEMIA.
ADDITIONALLY,MEAN CORPUSCULAR VOLUME(MCV) IS ALSO
OFTEN REPORTED IN A CBC, WHICH BASICALLY WE MEASURE THE
AVERAGE VOLUME OF RED BLOOD CELLS IN ABLOOD SAMPLE. THIS IS
IMPORTANT IN DISTINGUISHING THE CAUSES OF ANEMIA. UNITS OF MCV
ARE REPORTED IN TEMTOLITERS, A FRACTIONOF ONE MILLION OF A
LITER .
OTHER USEFUL CLUES TO CAUSES OF ANEMIA THAT ARE
REPORTED IN A CBC ARE THE SHAPE AND COLOR OF RBC.
THERE ARE WAYS TO SCREEN AND TREAT HEREDITARY
ANEMIA. BECAUSE HEREDITARY ANEMIA IS DETERMINED BY THE MAKE-
UP OF YOUR GENES,THERE ARE VARIOUS WAYS IN WHICH YOUR DOCTOR
CAN DETECT IF YOU HAVE ONE OF THESE GENETIC VARIATIONS. THE
PRESENCE OF ANEMIA, AS DETERMINED BY A BELOW NORMAL
HAEMOGLOBIN LEVEL, IS ONE IMPORTANT INDICATOR THAT YOU MAY
HAVE A HEREDITARY OR CHRONIC CONDITION THAT CAUSES ANEMIA.
THESE METHODS OF DETECTIONS ARE USUALLY REFERRED TO AS
GENETIC SCREENING TESTS AND INVOLVE PRECISE ANALYSIS OF
STRUCTURE OT YOUR GENES, BUT AREW NOT AVAILABLE YET FOR ALL
HEREDITARY ANEMIAS. TO HELP YOUR DOCTOR DIAGNOSE YOUR
ANEMIA, BE SURE TO TELL HIM/HER IF YOUR FAMILY HISTORY OF ANY
OF THE HEREDITARY CONDITION. THIS HISTORY CAN INDICATE IF YOU
ARE AT RISK FOR CARRYING ONE OF THE GENETICS VARIATIONS WHICH
CAN CAUSE ANEMIA.
THERE ARE MANY DIFFERENT TYPES OF TREATMENT FOR
HEREDITARY ANEMIAS WHICH COUNTS THE BODIES INABILITY TO
SUSTAIN HEALTHY LEVEL OF RED BLOOD CELLS AND MINIMISE THE
ANEMIA RELATED SYMPTOMS TO PATIENCE OFF EXPERIENCE.
THERE ARE NO SPECIFIC SURGICAL INTERVENTIONS FOR THE
TREATMENT OF ANEMIA. HOWEVER, DEPENDING ON THE CASE OF THE
ANEMIA SURGERY MAY BE A TREATMENT OPTION.