RED CELL DISORDERS

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welcome
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RED CELL DISORDERS

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RED BLOOD CELL

• Blood contains plasma 3 cells, red blood
  cell, white blood cells platelets.
• Red blood
  cells(erythrocytes) are major formed elements
  of the blood, contain pigmented Hb molecule.

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PRODUCTION

• After birth mainly from
  BM(vertebrae,sternum,ribs ilia) (from the stem
  cell differentiated into mature cell).
• Genesis-proerythroblast-erythroblast-reticulocyte-
  erythrocyte.
• It is mainly regulated by the hormone,
  erythropoetin(kidney), also vitB12 folate
  areessential for DNA synthesis.Mature RBC has no
  nucleus.

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HB

• Synthesis of Hb begins in the proerythroblast.
• Hb-hemeglobin(polypeptide chain) Hb chain
• HbA2a chain2b chain.
• Hb has the ability to combine loosely
  reversibly with oxygen

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• Lifespan 120 days.Once the red cell membrane
  becomes very fragile, the cell ruptures, Hb
  released, it is phagocytized by
  macrophages(liver, spleen,BM). Then macrophages
  release Fe back into blood for storage or new
  preperation ofHb. the porphyrin portion
  converted into bilirubin, which is released into
  blood later secreted by the liver into bile

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• Normal values
• Male
  Female Infants
• Cellcount 4-610,12/L 3-4
  5-6
• Hb 13-16g/dL 11-14.5
  g/dL 16-18g/dL
• PCV 40-54

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• MCV 76-94fl
• MCH 27-32pg
• MCHC 32-36g/dL
• Reticulocytes0.2-2.5
• ESR 0-10mm/hr 0-20mm/hr

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RED CELL DISORDERS

• 1.    Quantitative deficiency Anaemia.
• 2.Quantitative excesspolycythemia.

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Microcytic hypochromic anemia

• 1.    Iron deficiency( nutritional)
• 2.    Thalassemia.
• 3.sideroblastic.

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Normocytic normochromic anemia

• Anemia of systemic disease
• Aplastic
• Haemolytic
• Acute blood loss.

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Macrocytic anemia

• 1.  vit B12/ folate deficiency(megaloblastic)
• 2.  hypothyroidism
• 3.  liver disease
• 4.myelodysplastic syndrome.

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Quantitative excess

•      Primary
  
  
  
  
• 1.  polycythemia rubra vera
• 2. Primary erythrocytosis

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Secondary to hypoxemia

• 1.  high altitude
• 2.  chronic airways disease
• 3.  cyanotic heart disease

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•        secondary to tissue hypoxia
• 1.    smoking
• 2.    co poisoning
• 3.    renal artery stenosis
•        secondary to inappropriate erythropoetin
  production.
• 1.renal carcinoma.
  2.cushing syndrome .

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ANAEMIA

• Defintion- reduction of Hb levels below the
  normal valuesfor the different age sex
  groups.In India any Hb level below 12g/dL in
  adult males 11.5 g/dL in adult females is
  considered as anaemia.

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• General featers Irrespective of the etiology,
  anemic subjects devolop a group of symptoms on
  account of reduction in Hb. With falling of Hb,
  oxygen carrying capacity of blood diminishes.
  

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• The symptoms are, fatigue,disinclination to
  work,mental apathy, pallor, exertional
  dysnea,effort angina, CF.Symptoms are
  referable to all systems.

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Diagnosis

• Diagnosis- from detailed history, etiology,
  investigations.
• Investigations
• 1.    hemoglobinometry blood counts.
• 2.    Examination of blood smear.
• 3.    RDW(gt17-Fe deficiency A,lt17,thalassemia
  ACD)
• 4.    Examination of BM.

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• Course prognosis
• Depend upon the type of anemia.
• Management
• The specific management depend upon etiology.
• Hospitalization is advisable when Hb lt7g/dL

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NUTRITIONAL ANEMIA

• Fe deficiency of anemia
• Microcytic hypochromic anemia occurring in
  India is mostly due to iron deficiency

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• Etiology- either due to nutritional inadequacy
  or blood loss.
• C/f- pica,glositis,sideropenic dysphagia
  koilonichia.(plummer- vinson syndrome)
• Lab diagnosis-RBC-microcytic
  hypochromic,MCHC-lt27g/dL,RDW-gt17.serum
  Fe-lt80microgm/dL.

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• Complications
• 1.    infection-RSGIT.
• 2.    C/c A ltS the efficiency in work.
• Management
• -Fe supplimentation
• -Elimination of the cause.

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APLASTIC ANEMIA

• Lack of functioning of BM, due to exposed to r
  radiation(nuclear bomb), excess x ray tt,
  industrial chemicals some drugs, fanconis
  A(congenital).Children with fanconis A,
  microcephaly, polydactily,,abnormalities of the
  thumb radius abnormal pigmentation.

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• C/f- high fever, infection(lt WBC),
  bleeding(ltplatelets), pallor.
• Lab diagnosis- peripherel smear shows
  pancytopenia, BM trephine biopsy- dry tap

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• Treatment
• Difficult, red cell transfusion, to maintain
  Hb gt7gm, platelets ,prevent bleeding.Treat
  infection, Give androgens to stimulate stem cell
  recovery, allogenic BM transplantation.

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Megaloblastic anemia

• Loss of vit B12/FA/IF in stomach mucosa leads
  to slow production of RBC in BM, ,as a result
  these grow too large with odd shape(megaloblast).
  Atrophy of stomach mucosa in pernicious A(auto
  immune ds) or loss of entire stomach in total
  gastrectomy can leads to megaloblastic A.
  Megaloblast have fragile membrane, rupture
  easily.

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• Investigation- MCVgt,MCHC normal.
• Anisocytosis,
  poikilocytosis, punctate basophilia, howell jolly
  bodies cabot ring

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HEMOLYTIC ANEMIA

• Abnormalities of RBC(hereditary/ acquired) ,
  make cells fragile, so that they rupture
  easily as they go thru capillaries esp spleen,
  lifespan so short, that serious A results

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• Inherited red cell membrane disorders-Hereditory
  spherocytosis
• Autosomal dominent, red cells appear as
  small, round cells(spherocytes).Deficiency of
  redcell membrane proteins alter the shape
  make fragile cause rupture.

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• C/f- r/c jaundice cholilithiasis
• Splenomegaly,c/c leg ulcer,
• Reticulocyte count gt with indirect
  hyper bilurubinemia, gt osmotic fragility of
  RBC.
• Spenectomy

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• Enzyme disorders
• G6PD deficiency- x linked
• Red cell is totally dependent on glycolysis for
  energy.The enzyme deficiency causes hemolysis.
• Diagnosis
• Peripheral smear show bite cells presence of
  Heinz bodies

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HEINZ BODY
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HEMOGLOBINOPATHIES

• Sickle cell anemia- sequence AA in the globin
  chain is constant for that chain. Mutation in a
  gene leading to single AA substitution is the
  predominant type of abnormality recognized.
• Abnormal HbS is formed by the substitution of
  valine in place of glutamic acid in the 6th
  residue of the b chain of HbA, rupture easily
  hemolytic A occurs.HbS offers partial protection
  against F malaria

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• C/f- c/c hemolyticA, r/c vasoocclusion of
  various organs infections. Complications-
  sickling crisis,splenic sequestration syndrome
  a/c chest syndrome

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• First clinical symptoms appear 6m after birth
  as HbF is replaced by HbA.Dactylytis which is
  due to ischemic necrosis of MCMT phalangeal
  produce painful swelling of hand feet
  leading to shortening of phalanges , which
  is known as foot- hand syndrome.

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• Diagnosis
• Sickle cells
• Treatment
• FA supplimentation, blood transfusion, BM
  transplantation

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THALASSEMIAS

• The are heterogenous griup of disorders due to
  either lack or lt synthesis of a/b globin
  chain of Hb. Autosomal dominent.Two types-
  a b thalassemia.

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• b thalassemia
•        Thalassemia major(b0)
•        Intermedia(b0/b)
• Minor

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• A thalassemia
•        Hydrops fetalis( fetus die in utero)
•        HbH ds( mild A, splenomegaly, may be
  severe.)
•        Alfa T trait
•        Silent carrier

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• Thalassemia major(cooley s A)
• Most severe form, first described by
  Cooley.Affected infants present with severe
  A, falure to thrive with feeding
  difficulties..If not treated, thy devolop
  stunted growth, bossing of skull(marrow
  expansion), ostepenia, thinning of bones
  hepatosplenomegaly

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• Diagnosis
• Perepheral smear- aniso , poikilocytosis,
  hypochromia, microcytosis,, target clls
  nucleated cells.serum feritin gt
• Xray skull- hair on end appearance.
• Treatment
• Regular blood transfusion, splenectomy,
  future, gene therapy..

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• In EBF- Rh RBC in fetus are attacked by
  by Ab from Rh mother, these Ab make the
  cells fragile cause child born with
  severte A

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POLYCYTHEMIA

•        Polycythemia rubra vera- Hb lt 17g/dL
  PCVgt50
• It is a tumorous condition of the
  organs that produce blood cells.It produces
  excess production of RBC, alsoWBC platelets.
  Hematocrit total blood volume also gtd.As
  aresult of vascular system engorged, in
  addition many of the capillaries become
  plugged by the viscous blood.

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• C/f- facial plethora, injected conjunctiva
  palmar erythema or cyanosis.
• 75 with splenomegaly, 50 with hepatomegaly.75
  with thrombocytosis,50 with leucocytosis.

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• Diagnosis- BM- panhyperplasia.
• Complications- a/c leukemia
• Bleeding
• Thrombosis
• Some long surviving patients may develop BM
  failure associated with dense fibrosis, called
  spent phase.
• Treatment- Normalizing the Hb level, prevent
  thrombosis.

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