Diseases of the blood

BLOOD DISORDERS/DISEASES

ANEMIATHE MOST COMMON

DISORDER OF THE BLOOD

LACK OF RBC’S CARRYING OXYGEN• Main classes of etiology include:

Excessive blood loss – hemorrhage

Excessive blood cell destruction – hemolysis

Deficient red blood cell production

ANEMIADiagnosing the type of anemia is based on:

Nutrient deficiencies

Presence of immature RBC’s

Characteristic color and volume of RBC’s

Lab values

GENERAL SIGNS AND SYMPTOMS (of all anemias)

• Pallor or lack of color-especially mucuous membranes

• Fatigue• Dizziness• Headaches• Decreased exercise tolerance• Rapid heartbeat• Shortness of breath

GENERAL PROGNOSIS(if anemia is untreated)

• Heart failure • Cardiovascular collapse• Shock

IRON DEFICIENCY ANEMIA(most common cause of anemia)

ETIOLOGY:• Increased iron requirements,• Impaired iron absorption• Hemorrhage

WHAT DO I NEED TO KNOW ABOUT IRON DEFICIENT ANEMIA?

• Iron is needed to synthesize hemoglobin---which is needed to transport oxygen

• Iron requirements are greatest from birth to age two

WHAT DO I NEED TO KNOW ABOUT IRON DEFICIENT ANEMIA?

• Pregnancy requires supplements to ensure fetus gets enough iron

• Sudden growth spurts and onset of menstruation are risks for iron deficient anemia

WHAT ELSE DO I NEED TO KNOW ABOUT IRON DEFICIENT ANEMIA?

Absorption takes place in the GI tract so diseases that affect the mucosa of the GI tract can put your patient at a risk for anemia because they limit the availability of Iron needed to synthesize hemoglobin

EXAMPLES OF CAUSES

• Chronic diseases that cause inflammation

(inflammatory changes can suppress red blood cell synthesis in bone marrow and shorten life of RBC’s)• Removal of the stomach• Chronic disease treatment • Bowel disorders

DIAGNOSISCBC- low H&H

Reports of signs and symptoms including:• Extreme fatigue• Pale skin• Weakness• Shortness of breath• Headache• Dizziness or lightheadedness• Cold hands and feet• Irritability• Fast heartbeat• Unusual cravings for non-nutritive substances, such as ice, dirt or starch• Poor appetite, especially in infants and children with iron deficiency

anemia• An uncomfortable tingling or crawling feeling in your legs (restless legs

syndrome)

TREATMENT OF IRON DEFICIENCY ANEMIA

• Diet rich in iron• Vitamin supplements with iron• IV Supplements if necessary

• NOTE: iron supplements are constipating and oral doses should not be taken on an empty stomach

PERNICIOUS ANEMIA

Etiology:• Vitamin B12 absorption or intake is deficient

or utilization is inadequate • Deficiency in intrinsic factor (a protein in the

stomach needed so B12 can be absorbed from the small intestine)

• Removal of stomach or the bowel• Abnormal bacterial growth in small intestine• Strict vegetarianism

HOW DOES LACK OF B12 OR INTRINSIC FACTOR CAUSE ANEMIA?

• The deficiency causes the membranes of immature RBC’s to rupture easily leaving fewer RBC’s to carry oxygen

SYMPTOMS OF PERNICIOUS ANEMIA

• Nausea, vomiting, burning of the tongue• Neurological disturbances such as numbness,

weakness, poor reflexes• GENERAL SYMPTOMS OF ANEMIA

– Pallor or lack of color-especially mucuous membranes– Fatigue– Dizziness– Headaches– Decreased exercise tolerance– Rapid heartbeat– Shortness of breath

DIAGNOSIS OF PERNICIOUS ANEMIA

• Health history to rule out inherited lack of intrinsic factor

• Physical exam shows jaundice, enlarged liver, irregular heart rate

• CBC abnormal• Bone Marrow aspiration/biopsy(cells that

make blood cells will be larger than normal)

TREATMENT OF PERNICIOUS ANEMIA

• Vitamin B12 supplementation (injectable if it cannot be absorbed)

• NOTE: Pernicious Anemia puts you at a higher risk for stomach cancer

HEMOLYTIC ANEMIA

Etiology: Reduction in RBC’s by conditions that accelerate destruction of RBC’s such as:• Inherited abnormalities such as hemoglobin

defects, enzyme defects and membrane defects that impair intrinsic factor physical properties

• Infections/immune disorders (HIV, Lupus)• Medications (chemotherapy)

SIGNS AND SYMPTOMS OF HEMOLYTIC ANEMIA

• Mild may have no signs or symptoms • General s/s of anemia see slide four• Increased serum bilirubin levels from the

hemoglobin destruction in destroyed RBC’s

• Jaundice, dark urine and feces due to accumulation of bilirubin system

DIAGNOSIS OF HEMOLYTIC ANEMIA

• Enlarged spleen• CBC Includes H&H• Liver function blood tests• Bone Marrow Aspiration and or biopsy

TREATMENTS FOR HEMOLYTIC ANEMIA

• Blood transfusions• Medication• Plasmaphoresis• Surgery• Stem Cell transplants

Blood Transfusions

Blood transfusion reaction

• Caused by antibodies forming and person rejecting blood being transfused.

• Stop transfusion immediately.

MEDICATIONS

• Corticosteroids (Prednisone) - limit immune system from making antibodies(proteins) against RBC’s

• Rituximab, Cyclosporine – drugs that suppress your immune system

PLASMAPHORESIS

• A procedure that removes antibodies from the blood using a needle inserted into a vein. The plasma is separated from the rest of the blood and then donor plasma is put back into the blood.

SURGERY

• Spleenectomy – removal of spleen. An enlarged or diseased spleen may remove more RBC’s than normal. Removing it can help reduce high rates of RBC destruction

Note : a healthy spleen helps fight infection and filters out old or damaged blood cells.

APLASTIC ANEMIA

• bone marrow doesn’t make enough new blood cells because stem cells are damaged (Also caused bone marrow failure)

• Can be acquired or inherited

ACQUIRED APLASTIC ANEMIA ETIOLOGY

• Exposure to toxins—pesticides

• Radiation and chemotherapy• Antibiotics like chloramphenicol

• Hepatitis, HIV,CMV, Eptstein-Barr virus• Lupus, rheumatoid arthritis

SIGNS AND SYMPTOMS OF APLASTIC ANEMIA

• General signs and symptoms:– Pallor or lack of color-especially mucuous membranes– Fatigue– Dizziness– Headaches– Decreased exercise tolerance– Rapid heartbeat– Shortness of breath

• Decreased RBC’s, WBC’s and platelets• Nausea• Skin rashes

DIAGNOSIS OF APLASTIC ANEMIA

• History and physical

• CBC

• Reticulocyte count (# of young blood cells)

• Bone marrow aspiration/biopsy

TREATMENT OF APLASTIC ANEMIA

• Removal of known cause if possible

• Blood transfusions

• Blood and marrow stem cell transplants

• Medications

Blood and marrow stem cell transplants

MEDICATIONS

• Stimulate bone marrow-Erythropoieten and colony stimulating factors

• Suppress immune system

Antihymocyte globulin (ATG), cyclosporine and methylprednisone – all three given together

SICKLE CELL ANEMIA

• Blood cells are crescent shaped instead of round, because of abnormal hemoglobin.

• It is thready and cells are stiff and sticky.

• Sickled cells block blood flow, causing

pain, infection and organ damage.

WHAT CAUSES THE ANEMIA?

• After 10-20 days sickle cells die. Bone marrow can’t make new RBC’s fast enough to replace the dying ones

FACTS ABOUT SICKLE CELL ANEMIA

• It is inherited-one sickle gene from each parent

• People who have the disease are born with it

• If sickle cell gene from one parent and normal gene from other parent you have sickle cell trait.

• Most common in African Americans

SIGNS AND SYMPTOMS OF SICKLE CELL DISEASE

• General anemia s/s from slide four• Acute Pain throughout body is called

sickle cell crisis• Chronic pain in bones• Multiple organ failure

• Infections and dehydration can contribute to a sickle cell crisis

DIAGNOSIS

• Blood testing at newborn screening.• Amniotic fluid sampling before birth.

TREATMENT

• If in sickle cell crisis, treatment involves pain management with NSAIDS and or opiates, fluids and oxygen if levels are low.

• Hydroxyurea – medication that causes body to make fetal hemoglobin which helps blood cells from sickling and improves anemia

• Blood transfusions

COMPLICATIONS

• Stroke• Eye damage• Multiple organ failure• Leg ulcers• Gall stones• Priapism (painful erection in males)

EMERGING TRENDS

• Research on blood and marrow stem cell transplants and gene therapy is ongoing.

• New medications:

Decitabine – prompts body to make Fetal hemoglobin

Adenosine A2a receptor agonists – may reduce pain related complications

Disseminated Intravascular Coagulation (DIC)

This disease is an activation of blood clotting mechanisms that occurs in response to various other diseases. Small blood clots form throughout the body, followed by a disruption in the coagulation process and then abnormal bleeding from several places within the body. This may be followed by multiple organ failure and death if not treated immediately.

ETIOLOGY/CAUSES:

Cancer

Obstetric: Abruptio placentae, pre-eclampsia, embolism

Massive tissue injury from trauma, burns, surgery

Infections: Sepsis

Signs and symptoms

• Bleeding into intravascular spaces due to destruction of platelets and clotting factors.

• Widespread hemmorage • Extensive bruising• Renal failure• Shock

Diagnosis

• Blood test s• Prolonged PT, & PTT• Severe thrombocytopenia• Fragmented RBC’s• Physical exam

Treatment

• Reverse underlying cause• Platelet transfusions

Hemophilia

• An inheirited clotting disorder due to a deficiency of clotting factors

• X linked recessive disorder primarily affects males

• The body is not able to control blood clotting or coagulation when a blood vessel is broken

• Hemophilia A is deficient in Factor VIII• Hemophilia B is deficient in Factor IX

Signs and symptoms

• Internal and external bleeding episodes• Most common internal bleed is into the

joint. If bleeding into joints, can cause joint fibrosis

• Intracranial hemorrhage often cause of death

Diagnosis

• Genetic testing• PT/PTT• Platelet count• H&H

Treatment

• Replacement of clotting factor• Preventive exercises to strengthen the

joints. Increasing flexibility, tone and strenght.

• Anticoagulants are contraindicated (Heparin)

• Blood thinners are contraindicated (aspirin, ibuprofen, naproxen)

Leukemia

• Cancer of the blood or bone marrow• Proliferation of immature forms of WBC’s• Classified based on whether cells affected

are B Cells, T Cells (lymphoid tissue) or Myeloid cells (bone marrow)

• Occurs 10x more often in children than adults

Etiology

• Etiology is unknown, however research indicates some cases of leukemia are caused by treatment of other cancers, environmental factors and possibly pre-exposure to viruses

• Acute leukemia: rapid increase in immature blood cells

• Chronic leukemia: excessive build up of relatively mature, but still abnormal WBC’s

Classifications of Leukemia• Acute lymphoblastic leukemia (ALL) is the most common

type of leukemia in young children. This disease also affects adults, especially those age 65 and older. Standard treatments involve chemotherapy and radiotherapy.

• Chronic lymphocytic leukemia (CLL) most often affects adults over the age of 55. It sometimes occurs in younger adults, but it almost never affects children. Two-thirds of affected people are men.

• Acute myelogenous leukemia (AML) occurs more commonly in adults than in children, and more commonly in men than women. AML is treated with chemotherapy.

• Chronic myelogenous leukemia (CML) occurs mainly in adults. A very small number of children also develop this disease.

Signs and symptoms

• Fatigue• Weight loss• Repeated infections due to dysfunctional

WBC’s• Low grade fevers• Nosebleeds, easy bruising and

Hemorrhages due to lack of platelets• Anemia from RBC deficiency

Diagnosis

• CBC• Bone marrow biopsy

Treatment

• Chemotherapy• Bone marrow transplantation

What is Chemotherapy

• The most common chemotherapy agents act by killing cells that divide rapidly, one of the main properties of most cancer cells. This means that chemotherapy also harms cells that divide rapidly under normal circumstances: cells in the bone marrow, digestive tract and hair follicles. This results in the most common side-effects of chemotherapy: Immunosuppression, mucositis, alopecia

What is a Bone Marrow Transplant?

• A bone marrow transplant is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells.

• Bone marrow is the soft, fatty tissue inside your bones. Stem cells are immature cells in the bone marrow that give rise to all of your blood cells.

• There are three kinds of bone marrow transplants:• Autologous bone marrow transplant: "Auto" means "self." Stem

cells are removed from you before you receive high-dose chemotherapy or radiation treatment. After these treatments are done, your stems cells are put back in your body. This is called a "rescue" transplant.

• Allogeneic bone marrow transplant: "Allo" means "other." Stem cells are removed from another person, called a donor. Most times, the donor must have the same genetic makeup as the patient, so that their blood is a "match" to yours. Special blood tests are done to determine if a donor is a good match for you. A brother or sister is most likely to be a good match. However, sometimes parents, children, and other relatives may be good matches. Donors who are not related to the patient may be found through national bone marrow registries.

• Umbilical cord blood transplant: Stem cells are removed from a newborn baby's umbilical cord immediately after being born. The stem cells are stored until they are needed for a transplant. Umbilical cord blood cells are so immature, there is less of a concern that they will not match.