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ANAEMIA (Symptoms (anaemia symptoms are caused by the inadequate delivery…

- - - - Partial (hypoplastic anaemia, pure red cell aplasia)
        
        Diamond-Blackfan anaemia (DBA)
        
        Congenital pure red cell aplasia
        
        AD or AR inheritance
        
        65% of cases diagnosed before 6 months of age
        
        25% – congenital defects of skeleton, eyes, ears, inner organs
        
        Initial response to CS, transfusion-dependance
        
        Diagnostic
        
        Deep anaemia
        
        WBC, PLT normal
        
        Reticulocytopenia or no RTC
        
        Bone marrow aspiration – red cell line aplasia, no progenitors of erythrocytes
        
        Congenital: Diamond-Blackfan anaemia (DBS, DBA)
        
        Acquired: transient erythroblastopenia of childhood (TEC)
      - Complete (aplastic anaemia)
        
        Congenital: Fanconi anaemia
        
        Acquired: Idiopathic, Radiotherapy, Drugs, Viral infections, Immunological factors
        
        ↓or absence of haemopoietic elements in all cell lines in BM leading to PANCYTOPENIA in the peripheral blood
        
        Adults – mainly acquired, secondary
        
        Children – inherited predisposition or idiopathic
        
        Criteria
        
        Severe aplastic anaemia (SAA):
        PLT < 20.000
        NEUTROPHILS < 500/ml
        RTC < 0,1%, BM cellularity < 30% or „empty” BM
        
        Very severe: NEUTROPHILS < 200/ml
        
        treatment
        
        Mild cases - treated with supportive care (blood and platelet transfusions, antibiotics, immunoglobulins)
        
        Severe aplastic anaemia is a life-threatening condition. Untreated SAA leads to rapid death.
        
        Treatment of choice in children – allogeneic BMT
        
        Fanconi Anaemia
        
        AR condition
        
        malformations (hyperpigmentation, short stature, abnormal radii and thumbs, renal, ocular, heart malformations, developmental delay, hypogenitalism)
        
        BM failure occurring usually between 4 and 12 y.
        
        Increase in spontaneous chromosomal breakages in cells cultured from the PB
        
        Considerably increased risk of developing leukaemias and other malignancies (20%!!!)
        
        Median lifetime 16 years
        
        Treatment of choice: BMT
    - - Iron deficiency anaemia
        
        most common form of anaemia both in children and adults
        
        Causes
        
        too small stores of iron (preterm babies, twins, anaemia of pregnant woman, loss of blood before, during and after birth)
        
        too little iron in the diet (excess of unmodified cow milk, no meat and aggs)
        
        poor absorption of iron by the body
        
        loss of blood (including microbleeding from gastrointestinal tract
        and heavy menstrual bleedings)
        
        high requirements of iron (rapid growth, pregnancy, lactation)
        
        repeated blood donations
        
        prevention
        
        increased dietary intake and iron supplements 1-2 mg/kg/day in 3 doses in high risk groups
        
        Symptoms
        
        pale skin colour (pallor), fatigue, irritability, weakness, headache, shortness of breath, orthostatic hypotension, sore tongue, brittle nails, unusual food cravings (pica), decreased appetite, frequent infections
        
        Note: There may be no symptoms if anaemia is mild
        
        diagnostics
        
        ↓ HCT, ↓ HGB, ↓ MCV, ↓ MCHC
        
        ↓ serum ferritin (empty iron stores), ↓ serum iron level, ↓ transferrin saturation
        
        (+) stool for occult blood, High TIBC levels
        
        treatment
        
        Identification of the cause of deficiency
        
        Oral iron supplementation:
        ferrous sulphate
        the best absorption of iron is on an empty stomach
        milk and antacids should not be taken at the same time
        Vitamin C increases absorption and is essential in the HBG production
        
        HCT should return to normal after 2 months of iron therapy, but should be continued for another 6-12 months to replenish the body's iron stores
        
        Intravenous or intramuscular iron administration:
        available for patients when iron taken orally is not tolerated
        painful (im) or risky (iv)
        
        Iron-rich foods: raisins, meats (liver is the highest source), fish, poultry, eggs (yolk), legumes (peas and beans), and whole grain bread
      - Anaemia of B12 deficiency
        
        Vitamin B12 is essential for normal nervous system function and normal red cell, white cell and platelet production
        
        All sources of vit B12 come from animal products in diet, including dairy and eggs
        
        For vitamin B12 to be absorbed by the body, it must become bound to an intrinsic factor, a protein secreted by cells in the stomach
        
        Causes
        
        dietary (a strict vegetarian diet excluding all meat, fish, dairy products, and eggs), chronic alcoholism, abdominal or intestinal surgery that eliminates the site of intrinsic factor production or absorption, Crohn's disease, intestinal malabsorption disorders, fish tape worm
        
        pernicious anaemia (an inherited intrinsic factor deficiency)
        
        Very rare in children
      - Anaemia of folate deficiency
        
        Folate (folic acid) is necessary for RBC formation and growth
        
        Dietary sources of folate - green leafy vegetables and liver
        
        Folate is not stored in the body in large amounts so a continual dietary supply of folate is needed
        
        Causes
        
        poor dietary intake of folic acid (alcoholism, malabsorption diseases, medications)
        
        increased need for folic acid (third trimester of pregnancy, chronic haemolytic anaemia)
        
        In a pregnant woman, folate deficiency has been associated with neural tube defects (such as spina bifida) in the infant
      - diagnosis
        
        Anaemia of folate or vit B12 deficiency
        Symptoms:
        Tiredness, headache, sore mouth and tongue, pallor or jaundice
        numbness and tingling of hands and feet (vit B12 deficiency)
        Signs and tests:
        ↓ RBC, ↓ folate level, ↓ vit B12 level, ↓PLT, ↓WBC, ↑ MCV
        bone marrow examination
- - - - EXTRACORPUSCULAR ACQUIRED:
        Autoimmune haemolytic anaemias
        Infectious factors (parasites (malaria), bacterial toxins
        mediacations, Liver and renal failure
        Flow disturbances (valve prosthesis, canilae, catheters)
      - INTRACORPUSCULAR INHERITED
        
        RBC membrane defects
        
        eliptocytosis, ovalocytosis
        
        hereditary spherocytosis
        
        Inheritance AD (75%) or AR (25%)
        
        Abnormalities of one or more of skeletal proteins of RBC membrane (spectrin, ankyrin) causingthe loss of part of the membrane while passing through the spleen
        
        signs
        
        Jaundice, Anaemia, Splenomegaly
        
        Main complication – cholelithiasis
        
        course
        
        Haemolytic crisis – massive haemolysis exceeding the ability of BM compensation – after infection, stress, tiredness: more intense jaundice, massive splenomegaly, abdominal pain, fever, dark urine
        
        Aplastic crisis – BM failure to compensate haemolysis – after parvovirus B19 infection: mainly deep anaemia, slight jaundice, ↓ RTC, sometimes ↓ PLT and WBC
        
        Megaloblastic crisis
        
        diagnostic tests
        
        Spherocytes in PB smesrs, ↓ HGB
        
        ↑ ↑ ↑ RTC, ↑ urobiliniogen in urine, ↑ erythroblastosis of BM
        
        Indirect hyperbilirubinaemia, EMA test
        
        treatment
        
        Hospital cure during crises
        
        Continual supplementation of folic acid
        
        Splenectomy
        
        RBC enzyme defects
        
        pyruvate kinase deficiency
        
        G6PD deficiency
        
        hereditary, sex-linked, enzyme defect that results in the breakdown of RBC after stress, infection or certain drugs
        
        much higher incidence among Afro-Caribbean population affecting males.
        
        may occasionally affect females to a mild degree (depending on their genetic inheritance).
        
        Another type of this disorder can occur in whites who originated in the Mediterranean basin. Episodes of haemolysis are longer and more severe than in the other type of disorders.
        
        People with the disorder normally are not anaemic until the red cells are exposed to an oxidant or stress.
        
        Drugs that can precipitate this reaction include:
        antimalarial agents, sulfonamides (antibiotic), aspirin, NSAIDs, nitrofurantoin, quinidine quinine
        
        Haemoglobinopathies
        
        talassemia
        
        Sickle-Cell Anaemia
        
        hereditary condition in which HB is altered and changes its shape when the oxygen saturation in blood is reduced
        
        The RBC changes its shape, from round to crescent (sickle shaped).
        
        The sickle-shaped RBC interfere with normal blood flow by plugging up small blood vessels.
        
        The disease is found predominantly in Afro-Caribbean people; it also occurs in the Middle East and the Mediterranean area.
        
        Symptoms of the condition appear at about 6 months of age:
        enlargement of the abdomen and heart
        painful swelling of the hands and feet
        In adolescence, sexual maturation may be delayed
        The disturbances in blood flow predispose to infections and leg ulcers
        
        Sickle-cell anaemia occurs when an individual inherits a
        sickle-cell gene from each parent.