I INTRODUCTION:

Anemia is not a specific disease state but a sign of an underlying disorder. It is by far
the most common hematologic condition. Anemia, a condition in which the hemoglobin
concentration is lower than normal, reflects the presence of fewer than normal RBC’s
within the circulation. As a result the amount of oxygen delivered to the body tissue is
diminished.

Classification by etiology:
• Loss of RBCs – occurs with bleeding, potentially from many major source, such
as the gastrointestinal tract, the uterus, the nose, or a wound.
o Gastrointestinal conditions such as ulcers, hemorrhoids, gastritis
(inflammation of the stomach) and cancer
o Use of nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or
Motrin
o Menstruation and childbirth in women, especially if menstrual bleeding is
excessive and if there are multiple pregnancies
• Decreased production of RBCs – can be caused by a deficiency in cofactors
(including folic acid, vitamin B12, and iron) required for erythropoiesis; RBC
production may also be reduced if the bone marrow is suppressed or is
inadequately stimulated because of lack of erythropoietin.
o Iron deficiency anemia
o Vitamin deficiency
o Bone marrow and stem cell problems
• Increased destruction of RBCs – may occur because of an obstructive RES or
because the bonemarrow produces abnormal RBCs that are the destroyed by
the RES.
o Inherited conditions, such as sickle cell anemia and thalassemia
o Stressors such as infections, drugs, snake or spider venom, or certain
foods
o Toxins from advanced liver or kidney disease
o Inappropriate attack by the immune system (called hemolytic disease of
the newborn when it occurs in the fetus of a pregnant woman)
o Vascular grafts, prosthetic heart valves, tumors, severe burns, chemical
exposure, severe hypertension, and clotting disorders
o In rare cases, an enlarged spleen can trap red blood cells and destroy
them before their circulating time is up
HEMOCHROMATOSIS
Iron from the transfused erythrocytes is deposited in the reticuloendothelial system in the liver, spleen, and bone
marrow.
What is the normal function of the HFE gene?
(1)The HFE gene provides instructions for producing a protein that is located mainly on the surface of
intestinal cells, liver cells, and some cells in the immune system. During digestion, this protein helps certain cells
regulate the absorption of iron into the small intestine by interacting with other proteins located on the cell surface.
The body uses this mechanism to help monitor its supply of iron. When the proteins involved in iron sensing and
absorption are functioning properly, the body absorbs only about 10 percent of the iron ingested in the diet.
Research suggests that the HFE protein also helps control levels of another important iron regulatory
protein, hepcidin. Adequate levels of hepcidin are necessary to ensure that the body does not absorb and store too
much iron in its tissues and organs.
The other mutation replaces the amino acid histidine with the amino acid aspartic acid at position 63
(written as H63D or His63Asp). As a result of these substitutions, the altered protein is not sent to the cell surface
and does not interact with a cell surface receptor called the transferrin receptor. (2)The transferrin receptor plays a
critical role in regulating the amount of iron that enters the cell. When the HFE protein does not bind to the
transferrin receptor, too much iron enters the body through th cells of the small intestine. This increased absorption
of iron leads to the iron overload characteristic of this disorder.
http://ghr.nlm.nih.gov/gene=hfe GENETICS HOME REFERENCE
Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the
mutated gene, but do not show signs and symptoms of the condition.
Hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron
is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans
cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this
reason, hemochromatosis is also called an iron overload disorder
The pancreas also is commonly involved by primary hemochromatosis. Patients with early
hemochromatosis (noncirrhotic) frequently have insulin resistance.

Liver cancer
Manifestations:
• Weight loss
• Weakness
• Fatigue
• Jaundice
• Ascites
Treatment:
• Chemotherapy
• Surgery
• Transplantation
Cirrhosis
• Enlarged liver
• Ascites
• Weight loss
• Constipation or diarrhea
Treatment:
• Gastric distress/bleeding
Antacids- neutralize the hydrochloric acid secreted by the stomach.
• Ascites
Potassium sparing diuretics- decrease blood volume which decreases the workload of the heart.
Heart arrhythmias
Treatment:
Antiarrhythmics- reduce automacity, sow conduction of electrical impulses through the heart.
Heart failure
L-sided HF:
• Dyspnea on exertion
• Tachycardia
• Pale, cool extremities
• Fatigue
• Insomnia/restlessness
R side HF:
 • Weight gain
• Nausea & anorexia
• Jugular vein distention
• Edema
Treatment:
• Diuretics- decrease blood volume which decreases the workload of the heart.
• Angiotensin converting inhibitor- relieves sings & symptoms of HF. Promote vasodilation and
diuresis by decreasing after load and preload.
• Digitalis- increases the force of myocardial contraction and slows conduction through the AV
node. It also enhances diuresis, which removes fluid relieves edema.
Diabetes
Insulin therapy
Bronzing of the skin

POLYCYTHEMIA
Bone marrow is described as being hypercellular if the number of cells present in the bone marrow is
unusually great.
Thromboses and bleeding are frequent in persons with PV and MPD, and they result from the
disruption of hemostatic mechanisms because of (1) an increased level of red blood cells and (2) an
elevation of the platelet count. Recent findings indicate the additional roles of tissue factor and
polymorphonuclear leukocytes in clotting, the platelet surface as a contributor to phospholipid-dependent
coagulation reactions, and the entity of microparticles. Tissue factor is also synthesized by blood
leukocytes, the level of which is increased in persons with MPD, which can contribute to thrombosis.
Hypovolemia is the excessive loss of water and electrolytes in equal proportion.
FATIGUE
The most common symptom of iron overload is weakness, lethargy and a fatigue that is disabling. As the
iron builds up it disturbs other body processes and depletes certain minerals and vitamins such as zinc, and
vitamin E and vitamin C.
Pain
CIRRHOSIS OF THE LIVER
Abdominal pain is the next most common symptom and this is usually in the right upper quadrant because
the liver is involved. In iron overload patients, cirrhosis of the liver is 13 times more common than in the
general population.

Symptoms
• Breathing difficulty when lying down • Itchiness, especially following a warm
• Dizziness bath
• Fullness in the left upper abdomen • Red coloration, especially of the face
• Headache • Shortness of breath
• Symptoms of phlebitis
Exams and Tests
• Bone marrow biopsy-The test is done after abnormal types or numbers of red or white blood cells
are found in a complete blood count, or to evaluate whether other diseases are present in the bone
marrow
• Blood volume
• Complete blood count- The CBC is a screening test, used to diagnose and manage numerous
diseases. It can show abnormalities in the production, life span, and rate of destruction of blood
cells.
Iron Rich Foods
liver egg yolks
lean red meats, including beef, pork, lamb
seafood, such as oysters, clams, tuna, salmon,
and shrimp, etc.
greens, including collard greens, kale, mustard
greens, spinach, and turnip greens
tofu
vegetables, including broccoli, swiss chard,
asparagus, parsley, watercress, brussel sprouts
chicken and turkey
nuts