ANEMIAS

1
ANEMIAS

• Dr. Aamer Aleem
• Consultant Hematologist
• Associate Prof. of Medicine
• KKUH College of Medicine
• Riyadh

2
Anemia

• Anemia is present when a patient has a reduced
  amount of hemoglobin per unit volume of blood
  when compared with the correct reference
  population for that patient.
• Males Hb-13-18
• Females Hb 12-17

3
ANEMIA

• Single cell line(RBC) problem
• Multiple cell line problem
• (RBC,WBC,Platelet)
• -Bone marrow suppression
• -immunologic disorders
• -peripheral destruction/sequestration

4
Anemia

• Anemia is generally defined as a hematocrit
• lt40 (hemoglobin lt13.0 g/dL) in men or
• lt37 (hemoglobin lt12.0 g/dL) in women.
• (WHO definition)
• Red blood cell (RBC) indices, which include
  the mean corpuscular volume (MCV), the mean
  corpuscular hemoglobin (MCH), the mean
  corpuscular hemoglobin content (MCHC), and the
  red-cell distribution width (RDW) index, are
  further used to define types of anemia.

5
Anemia

• Despite having a set of peculiar symptoms and
  signs, anemia is not a disease per se, but a
  syndrome, as it may arise from an extensive list
  of causes.
• It is the chronic syndrome of highest prevalence
  in clinical medicine.

6
Anemia Etiology

• Based on Hb, red cell indices, retic count and
  red cell morphology
• (1) Inadequate response
• A. Hypochromic microcyctic
• B. Normochromic Normocytic
• C. Macrocytic
• (2)Adequate response
• R/O blood loss---Includes Hemolytic
• disorders

7
Anemia-symptoms

• What are the symptoms of Anemia ?
• General malaise, weakness, fatigue,
  breathlessness on exertion, palpitations, angina.
  
• Desire to eat sand and clay.
• Menorrhagia common in women.

8
Symptoms of Anemia

• The central nervous system, the heart and the
  muscle mass are the most affected organs, since
  they are the ones that most need oxygen for their
  functions.
• The symptoms increase with physical activity, as
  this consumes oxygen.
• With hemoglobin between 9 and 11 g/dL there's
  irritability, headache and psychic asthenia in
  the elder fatigability is observed, and angina
  may occur.
• With hemoglobin between 6 and 9 g/dL there's
  tachycardia, dyspnea and fatigue upon the
  slightest effort.
• With hemoglobin below 6 g/dL symptoms are present
  even in sedentary activities, and when below 3.5
  g/dL heart failure is impending and any activity
  is unfeasible.

9
COMPLETE BLOOD COUNT

• Hb Conc (g/dl)
• Hematocrit (PCV)
• MCV (fl)
• MCH (pg)
• RDW(measure of red cell size variability)
• RBC Count (x109/L )
• WbC Count (x109/L )
• Platelet Count (x109/L)
• (Reticulocyte Count) ( )

10
Red Cell Indices

• MCV defines the size of the red blood cells and
  is expressed as femtoliters (10-15 fl) or as
  cubic microns (µm3). The normal values for MCV
  are 87 7 fl.
• MCH quantifies the amount of hemoglobin per red
  blood cell. The normal values for MCH are 29 2
  picograms (pg) per cell.
• MCHC indicates the amount of hemoglobin per unit
  volume. In contrast to MCH, MCHC correlates the
  hemoglobin content with the volume of the cell.
  It is expressed as g/dl of red blood cells or as
  a percentage value. The normal values for MCHC
  are 34 2 g/dl.

11
Red Cell Indices

• How to calculate red cell indices

12
Glossary of Useful Blood Count Descriptors

• Anisocytosis red cells of unequal size.
  Reflected in increased RDW (Red cell Distribution
  Width.) Dimorphic Blood Film two populations of
  red cells - one microcytic and the other
  normocytic. Seen in treated or transfused iron
  deficiency, and sideroblastic anemia Howell-Jolly
  bodies round nuclear remnants within the red
  cells. Indicate splenectomy or hyposplenismMacrocy
  tosis large red cells Erythroblast any
  nucleated red cell precursor Hypersegmented
  neutrophils a neutrophil with six or more lobes.
  Usually (but not inevitably) means vitamin B12 or
  folate deficiency

13
Glossary of Useful Blood Count Descriptors

• Hypochromia pale red cells. Always
  accompanied by microcytosis Leukoerythroblastic
  the presence of erythroblasts and myelocytes
  (which are precursors of mature cells) in the
  blood. Often indicates marrow infiltration eg by
  secondary cancer or fibrosis
• Microangiopathy indicates mechanical damage
  to red cells with red cell fragments on the blood
  filmMicrocytosis small red cells
  Poikilocytosis a traditional term for red cells
  of unequal shape
• Polychromasia grey coloured red cells on
  film, indicating presence of increased
  reticulocytes
• Reticulocyte an erythrocyte newly released
  from the bone marrow

14
Glossary of Useful Blood Count Descriptors

• Rouleaux red cells in stacks, as coins.
  Indicates high ESR, eg infection, myeloma,
  cancer, collagen disease, TB etc.
• Schistocyte a red cell which has undergone
  mechanical damage - synonymous with red cell
  fragment
• Spherocyte a spherical red cell due to
  disproportionate membrane loss. Either inherited,
  or acquired from (usually) immune causes
• Sickle cell a crescent-shaped red cell
  characteristic of Sickle Cell Anemia
• Target cell red cell with central area of Hb
  giving the appearance of a target. Seen in many
  conditions, including IDA, hemoglobinopathy and
  liver disease

15
Rouleaux

• Rouleaux (singular is rouleau) are stacks of
  red blood cells. They occur when the plasma
  protein concentration is high, and because of
  them the ESR (erythrocyte sedimentation rate) is
  also increased. Conditions which do this include
  infections, inflammatory and connective tissue
  disorders, and cancers. In this case, the
  diagnosis is probably multiple myeloma, as a
  plasma cell can be seen on the film.

16
Erythroblasts other BM cells

• Erythroblasts are the precursor cells of
  erythrocytes. They contain nuclei, and in adults
  are only found in the bone marrow under normal
  circumstances. Their presence in the blood may
  indicate either marrow 'stress', as in hypoxia,
  severe sepsis, or hemolysis, for example, or some
  fundamental bone marrow pathology such as
  replacement by secondary cancer.

17
Anisocytosis

• Anisocytosis means that the red cells are of
  unequal size. It is a feature of many anemias,
  and other blood conditions, and does not have
  much diagnostic value. The 'red cell distribution
  width' (RDW) is a quantitative measure of the
  degree of anisocytosis. The RDW is useful in the
  differential diagnosis of microcytic anemia. Most
  cases of iron deficiency have a raised RDW, and
  most cases of thalassemia trait have a normal
  RDW.

18
Dimorphic Red Blood Cells

• There are two populations of red cells
  present. One is normocytic, and the other is
  microcytic. This occurs either because an
  iron-deficient patient has been transfused or
  treated with iron, or in the Sideroblastic
  Anemias.

19
Anemia-diagnosis

• How can we diagnose Anemia ?
  
• Blood tests to detect the various
  components of blood is carried out for proper
  diagnosis.
• Red blood cell count may be normal or
  decreased.
• Peripheral blood smear shows pale small cells.
  
• White blood cell count normal or decreased

20
Classification of anemia

• Anemia can be either acute or chronic.
• In acute anemia (sudden loss of blood), the lack
  of blood volume in the circulatory system is more
  important than the deficiency of hemoglobin. A
  loss up to 10 of blood volume, as that taking
  place upon blood donation, is well tolerated.
  Losses between 10 and 20 cause postural
  hypotension, dizziness and faint. In losses above
  20, there's tachycardia, cold extremities,
  extreme paleness and hypotension, followed by
  shock should the loss surmount 30, without
  immediate replacement of intravenous fluids, the
  shock rapidly becomes irreversible and fatal.
• In chronic anemia, there's no decrease in blood
  volume, which is compensated by an increase in
  plasma volume.

21
Classification of anemia

• Based on MCV
• Microcytic anemia
• Normocytic anemia
• Macrocytic anemai

22
Classification of anemia

• Based on underlying process
• Blood loss or def. of nutrients
• Hemolysis
• Failure of production

23
A diagnostic scheme for anemias

• Determine the MCV
• The most useful initial approach to anemia is
  based on red cell size. The Mean Corpuscular
  Volume (MCV) represents a direct measurement of
  red cell size. When this is reduced, the anemia
  is referred to as microcytic. It is macrocytic
  when the MCV is increased, and normocytic when
  the MCV is normal.

24
Anemia-classification

• One way to classify anemia is by RBC size (i.e.,
  MCV), as microcytic, macrocytic, or normocytic.
  For the microcytic anemias, the etiologic
  possibilities are iron deficiency, thalassemia,
  sideroblastic anemia, and the anemias of chronic
  disease. Severe microcytic anemia (MCV lt70 fL) is
  caused mainly by iron deficiency or thalassemia.
  Macrocytic anemia may be the result of
  megaloblastic (folate or vitamin B12 deficiency)
  or nonmegaloblastic causes. Folate deficiency can
  in turn be due to either reduced intake or
  diminished absorption. Severe macrocytic anemia
  (MCV gt125 fL) is almost always megaloblastic. In
  some rare cases, macrocytic anemia is related to
  the myelodysplastic syndromes prior to or after
  chemotherapy.
• The causes of normocytic anemias include aplastic
  anemia, bone-marrow replacement, pure red-cell
  aplasia, anemias of chronic disease, hemolytic
  anemia, and recent blood loss. A number of
  anemias have a genetic etiology. Examples of such
  inherited disorders include hereditary
  spherocytosis and sickle-cell (SC) anemia

25
(No Transcript)
26
Hypochromic Microcytic AnemiaD/D

• Microcytic anemias
• the etiologic possibilities are
• Iron deficiency
• Thalassemia
• Sideroblastic anemia
• Anemias of chronic disease.
• Severe microcytic anemia (MCV lt70 fL) is
• caused mainly by iron deficiency or
  thalassemia.

27
Normochromic Normocytic AnemiaD/D

• Chronic inflammatory disease(1)infection
  (2)collagen vascular disease (3)inflammatory
  bowel disease
• Recent blood loss
• Malignancy/Marrow infiltration
• Chronic renal failure
• Transient erythroblastopenia of chidhood
• Marrow aplasia/hypoplasia
• HIV infection
• Hemophagocytic syndrome

28
Macrocytic Anemia D/D

• Megaloblastic anemias
• Vit.B12 def. - (1) pernicious anemia
• (2) malabsorption
• Folate def. - (1) malnutrition (2)
  malabsorption
• (3) chronic hemolysis (4)drugs -
  phenytoin, sulfa
• Hemolysis
• Myelodysplastic syndrome
• Marrow failure - Aplastic anemia
• Chronic liver disease
• Hypothyroidism

29
Macrocytic anemia D/D

• Macrocytic anemia may be the result of
  megaloblastic (folate or vitamin B12 deficiency)
  or nonmegaloblastic causes. Folate deficiency can
  in turn be due to either reduced intake or
  diminished absorption. Severe macrocytic anemia
  (MCV gt125 fL) is almost always megaloblastic.

30
The Normocytic Anemias

• These may be classified as follows
• underproduction of erythrocytes due to
• (1) the anemia of chronic disease
• (2) marrow failure
• (3) renal failure (decreased erythropoietin)
• loss or destruction of erythrocytes due to
• (1) hemolysis
• (2) acute blood loss
• The reticulocyte count is useful in drawing this
  distinction, being elevated in (b) and reduced in
  (a).

31
The Normocytic Anemias

• The causes of normocytic anemias include aplastic
  anemia, bone-marrow replacement, pure red-cell
  aplasia, anemias of chronic disease, hemolytic
  anemia, and recent blood loss. A number of
  anemias have a genetic etiology. Examples of such
  inherited disorders include hereditary
  spherocytosis, sickle-cell (SC) anemia, and
  thalassemia

32
Hemolytic Disorders

• Hemoglobinopathy Hb SS,SC,S-Bthal
• Enzymopathy--G6PD def, PK def
• MembranopathyHereditary spherocytosis,
  elliptocytosis
• Extrinsic factorsDIC, TTP, HUS,
• Immune hemolytic anemia---Autoimmune, Drug induced

33
Diagnostic Approach-History

• Age Iron def rare without blood loss before 6
  months in term infants.
• Family Hist Genetics
• (1)X-linked G6PD deficiency
• (2)Aut dominant Spherocytosis
  
• (3)Aut recessiveSickle cell,Fanconi anemia
  
• (4)Family member with early age of
• cholecystectomy/splenectomy
• (5)Ethnicity (Thalassemia Mediterranean
• G6PD def (Greeks, Blacks, Middle
  eastern) (6)RaceB-thalMedi
  terranean,African,Asian
• A-thal Blacks, Asians
  

34
Diagnostic Approach-History

• Nutrition (1)Cows milk dietiron def.
• (2)Strict vegetarianVit B12 def.
  
• (3)Goats milk Folate def.
  
• (4)Pica Plumbism,Iron def.
  
• (5)Cholestasis, malabsorptionVit E def
  
• Drugs (1)G6PD oxidants (sulfa, primaquine)
  (2)Immune mediated hemolysis(penicillin) (3)Bone
  marrow suppression(chemotherapy) (4)Phenytoin
  increases folate requirement

35
Diagnostic Approach-History

• Diarrhoea-Malabsorption of VitB12/E/Fe.
  Inflammatory bowel disease and anemia of
  chronic disease with or without blood loss.
  Milk protein intolerance induced blood loss
  Intestinal resection Vit B12 def
• Infection Giardiairon malabsorption
  Intestinal bacterial overgrowthVit B12
  def Fish tapewormVit B12 def
  
  -EBV,CMV,ParvovirusBMsuppression
  Mycoplasma,Malariahemolysis
  Hepatitisaplastic anemia
  Endocarditis, HIV

36
Physical exam reveals presence and potential
causes of anemia

• Fever-acute infection,intravascular
  disease,collagen vascular disease
• Jaundice suggests hemolysis
• Petechia Purpurableeding tendency
• Hypertension edema-renal disease
• Hepatosplenomegaly and lymphadenopathyinfiltrativ
  e disease
• Growth failure or poor wt. gainAnemia of chronic
  disease or organ failure
• Examine stool for blood urine for hemoglobinuria
• (Admit tranfuse if signs of CHF)

37
Physical Findings in Anemia

• Skin Hyperpigmentation, café-au-lait spots-
  Fanconi anemia
  Petechia purpura-BM
  infiltration, autoimmune hemolysis
  thrombocytopenia
  Erythematous rash-Parvovirus, EB virus
  Butterfly rash-SLE Vitiligo-Vit B12
  def.
• HeadFrontal bossing-Thalassemia major,
  
• Microcephaly-Fanconi anemia
• Mouth Glossitis-B12 def, iron deficiency
• Angular stomatitis-Iron deficiency
  Pigmentation-Peutz Jeghers
  syndrome Telangiectasia-Osler
  Weber Rendu syndrome

38
Physical Findings in Anemia

• ExtremitiesAbsent thumb-Fanconi anemia -Spoon
  nails-Iron deficiency
  -Dystrophic nails-Dyskeratosis congenita
• CNS-Irritable, apathy-Iron def.
  -Peripheral neuropathy-lead poisoning
  -Ataxia, post.column signs-Vit B12 def -
  -Stroke-Sickle cell anemia
• Short stature-Fanconi anemia, Malnutrition

39
(No Transcript)
40
Laboratory Evaluation

• Hematology Complete Blood Count, Retic count,
  Peripheral smear, ESR, G6PD, Sickling(/- inf),
• Hb electrophoresis, Coombs Test, Osmotic
  fragility test, BM aspiration
• Biochemistry LFT, UE, RFT, S.Ferrtin,
  S.Haptoglobin, Iron, VitB12, Folate,
  Ceruloplasmin
• SerologyHeterophil antibody, ANA,Viral
• Urinalysis, microscopy, culture/sensitivity
• Stool exam. for ova, parasites, occult blood
• Endoscopy upper and lower bowel
• Imaging US Abdomen, Skeletal radiographs, Tc
  pertechnetate scan for Meckels
  diverticulum
• Tissue biopsy skin, lymph node, liver

41
Laboratory Evaluation

• Hematology Complete Blood Count, Retic count,
  Peripheral smear, ESR, G6PD, Sickling(/- inf),
• Hb electrophoresis, Coombs Test, Osmotic
  fragility test, BM aspiration
• Biochemistry LFT, UE, RFT, S.Ferrtin,
  S.Haptoglobin, Iron, VitB12, Folate,
  Ceruloplasmin
• SerologyHeterophil antibody, ANA,Viral
• Urinalysis, microscopy, culture/sensitivity
• Stool exam. for ova, parasites, occult blood
• Endoscopy upper and lower bowel
• Imaging US Abdomen, Skeletal radiographs, Tc
  pertechnetate scan for Meckels
  diverticulum
• Tissue biopsy skin, lymph node, liver

42
Microcytic Anemia

• TEST Iron def ThalMin An of
  ch dis
• S.Iron - low normal
  normal
• S.Ferritin - low N/H
  N/H
• Marrow iron - low N/H N/H
• Hb A2 or F - N HBthal N
• NAthal
• RDW - high normal
  N/H
• MCV RBC - gt13 lt 13
• Sickle/B-thal Hb S gt Hb A
• Absence of microcytosis in both parents excludes
  B-thal or Sickle/B-thal but not A-thal

43
Anemia-treatment

• How can Anemia be treated ? As there are
  many factors causing anemia, the main treatment
  is for the cause.
• Specific treatment of disorder causing anemia.
• Replacement of missing factors (iron, vitamin
  B12, folate)
• In many chronic anemias regular blood
  transfusions are needed (thalassemia,
  myelodysplastic syndrome)
• Blood transfusion is usually needed in acute
  blood loss or if the patient has severe symptoms
  or in heart failure
• (Problems of blood transfusion)

44
Iron deficiency anemia (IDA)

• It is a condition when supply of iron in the body
  to bone marrow falls short of that required for
  the production of red blood cells. It is the
  commonest cause of anemia throughout the world.

45
Iron Deficiency Anemia

• The incidence of anemia in the general population
  is about 1.5.
• Iron deficiency related to inadequate replacement
  of lost iron is the most frequent cause of
  asymptomatic anemia and has a variety of causes.
• Iron deficiency is common among women of
  childbearing age 10 to 20 of menstruating
  women have abnormally low concentrations of
  hemoglobin (usually lt12 g per 100 mL).

46
Iron Deficiency Anemia

• What are the causes of IDA ?
• Increased physiological demand for more red
  blood cells
• eg increased physical activity.
• In children, during spurts of growth.
• In women during menstruation, pregnancy,
  parturition
• and lactation.
• Inadequate dietary intake due to poor economic
  reasons
• or deficient foods.
• Decreased absorption due to disorders in the
  digestive
• system.
• GI blood loss Peptic ulcer, piles, hiatus
  hernia, carcinoma of
• stomach, carcinoma colon, chronic
  ingestion of a certain type
• of pain relievers, hookworm infestation.

47
Iron Deficiency Anemia

• Between 20 and 60 of pregnant women have
  hemoglobin levels lt11 g per 100 mL. Anemia was
  found in 6 of white women and 17 of black women
  during the first trimester and in 25 of white
  women and 46 of black women during the third
  trimester.

48
Iron Deficiency Anemia

• The high rates of anemia in pregnant women are
  not attributable to iron deficiency alone,
  however. In a large study of low-income, urban,
  mostly minority pregnant women, only 12.5 were
  iron deficient. Women progressing through
  pregnancy develop a lowered hematocrit as a
  result of physiologic hydremia related to a
  disproportionate increase in plasma volume.

49
Iron Deficiency Anemia

• The daily oral iron requirement for men and
  postmenopausal women is 0.5 and 1 mg
• Menstruating and pregnant women have higher
  requirements 2 mg and 2.5 mg, respectively.
• The replacement of lost iron is complicated by
  the fact that only 5 to 10 of the 10 to 20 mg
  of the iron in the average adult diet is
  absorbed.
• Anemia is less likely to occur in women taking
  birth control pills and more likely to occur in
  women with intrauterine devices.

50
Iron Deficiency Anemia

• Because men and postmenopausal women rarely
  develop iron deficiency that is not related to
  gastrointestinal blood loss (often occult), an
  evaluation of gastrointestinal tract must be
  performed when an iron deficiency is detected in
  these individuals

51
IDA-Practice Point

• Iron def. is common in children 9mo-3yr
• Iron def. anemia in a child over 3yr should
  prompt consideration of occult blood loss.
• Infants less than 6months generally do not
  develop iron def. the exception to this rule is
  premature infants,who are at risk of iron def.at
  4mo, if iron supplementation is not given.

52
Iron Deficiency Anemia-Diagnosis

• Red blood cell count may be normal or decreased.
• Peripheral blood smear shows pale small cells.
• Aniso-poikilocytosis
• White blood cell count usually normal
• Serum iron is reduced
• Total iron binding capacity of blood shows an
  increase.
• Low serum ferritin

53
Iron Deficiency Anemia-Treatment

• Correction of iron deficiency - to restore
  hemoglobin level.
• To replenish iron stores.
• Oral iron administration is advised. (Side
  effects of oral iron)
• Parenteral iron may be needed occasionally
• Treat the underlying cause

54
Anemia of Chronic Disease

• Patients with cancer, infection, or inflammation,
  commonly have a mild-to-moderate anemia caused by
  red cell underproduction. This 'anemia of chronic
  disease' is very common, and is usually
  normocytic. Some cases develop abnormalities of
  iron metabolism, in which case there may be a
  microcytosis.

55
Hemolysis

• Hemolysis is defined as the premature destruction
  of red blood cells, from whatever cause.
• Recognising the presence of hemolysis
• The simplest tests are
• Raised reticulocyte count
• Raised indirect (unconjugated) bilirubin
• Raised serum LDH
• Diminished serum haptoglobin concentration.
  Further more sophisticated testing may be needed
  in some cases.

56
Hemolysis

• A Direct Coombs' Test tells you whether the red
  blood cells are antibody-coated, and, in the
  presence of hemolysis, indicates an
  immune-mediated process (Autoimmune hemolytic
  anemia).
• Note that many patients with a positive Direct
  Coombs' test do not have hemolysis.

57
Hemolysis

• Principal causes
• Inherited abnormalities
• Membrane (Hereditary Spherocytosis)
• Hemoglobin (Sickle Cell Anemia)
• Enzymes (Glucose-6-phosphate
• dehydrogenase (G6PD) deficiency)

58
Hemolysis

• Acquired causes
• Immune
• Warm and Cold Autoimmune Hemolytic Anemia
• Non-immune
• Mechanical Damage from leaky heart valves
• Microangiopathic hemolytic anemia (MAHA) like
  TTP, HUS DIC

59
Lead Poisoning

• Hypochromic microcytic anemia
• Associated iron deficiency
• Child has pica and is exposed to lead paint or
  lead dust
• Blood smear shows basophilic stipling and blood
  lead is elevated.
• Removal from exposure,chelation therapy and
  correction of iron deficiency are important.

60
THALASSEMIA

• Normal Hb is a tetramer of 2 alpha and 2 beta
  chains
• Alpha-thalassemiadecrease or total lack of alpha
  globin synthesis
• Beta-thalassemiadecrease or total lack of beta
  globin synthesis

61
THALASSEMIA

• Clinical classification-
• Silent carrier(AorB)normal CBC
• Thal trait(AorB)mild anemia(HM)
• HbHdisease(A-thal)moderately severe hemolytic
  anemia,icterus,splenomegaly
• Severe Beta-thalsevere anemia,growth
  retardation,hepatosplenomegaly,bony def.
• Thalassemia majortranfusion dependent
• Thal-intermediano regular transfusions

62
THALASSEMIA-complications

• HbH diseasesevere hemolytic anemia,spenomegaly,hy
  persplenism
• Thal-majorpoorly trasfused-skeletal
  abnormalities,growth retardation,CHF
• Thal-majorwell transfused with iron
  overload-(1)Endocrine disturbancesdelayed
  puberty,growth retardation,diabetes
  mellitus,hypothyroidism (2)Cardiacarrhythmias,
  congestive heart failure (3)Hepaticcirrhosis,
  liver failure

63
THALASSEMIA-Lab

• Thal traitHb 9-10 g/dl
• HbH diseaseHb 6-7 g/dl
• Thal intermediaHb 7-8 g/dl
• Thal majorHb less than 5 g/dl
• Peripheral smearhypochromic,microcytic,
  anisopoikilocytosis,target cells
• Hb electrophoresis (1)Thal trait-HbF 1-5,
  HbA2 3.5-8,rest HbA (2)Thal major- HbF
  20-100,HbA2 2-7,HbA 0-60

64
THALASSEMIA-therapy

• Red cell transfusion 3-4 weekly-Hb 9-10
• Chelation therapy with desferrioxamine
• Splenectomy if transfusion gt200ml/kg/yr
• Folic acid 5mg daily
• Penicillin prophylaxis to all splenectomised
• Pneumococcal and Hib vaccine before sply.
• Cholecystectomy for gall stones
• Bone marrow transplantation is curative
• Genetic counselling

65
SICKLE CELL DISEASE

• SA Sickle cell trait-asymptomatic
• SS Sickle cell anemia
• S-BthalSickle cell-beta thal
• SC Hb SC disease
• PathophysiologyValine replaced by glutamic
  acid at Beta 6 position. With
  deoxygenation HbS crystallisesgels

66
Clinical features

• Anemiachronic,onset at 3-4 mo
• Aplastic crisisparvo virus B12
• Sequestation crisisusuallyspleen
• Hemolytic crisis
• DactylitisHand foot syndrome(infant)
• Painful crisismuscle,bone,bone marrow,lung,
  intestines
• Cerebrovascular accidents
• Acute chest syndromeinfection,infarction,emb
• Chronic lung diseasepulmonary fibrosis,restictive
  lung disease,cor pulmonale

67
Clinical features

• Priapism
• Ocularretinopathy
• Gall bladder diseasestones,cholecystitis
• Renalhematuria,conc.deficit,nephropathy
• Cardiomyopathy
• Skeletalavascular necrosis of femoral head
• Leg ulcerationin older pts
• Infectionspneumococcal pneumonia,meningitis,
  arthritis,Hinf sepsis,salmonellastaph
  osteomyelitis,mycoplasma pneumonia,viral infe
• Growth failure,delayed puberty
• Psychologic problemschronic illness,chronic pain

68
THERAPY

• Anemia is usually chroniccompensated
• Blood transfusion only given based on clinical
  condition,Hb levelretic count
• CrisisSplenic sequestration crisis,aplastic
  crisis,hyperhemolytic crisis-in all of these
  PRBC is indicated when anemia is sympto.
• Pain crisisIVF,analgesia with narcotics,NSAIDs
• Acute chest syndromeO2,judicial use of
  analgesicsfluids,antibiotics,PRBC
• StrokeO2,fluids,exchange transfusion
• Hydroxyureadecrease numberseverity of VOC
• Bone marrow transplantation

69
G6PD deficiency

• Episodic hemolysis on exposure to oxidants
• Severity of hemolysis depends on the
  enzyme variant
• Gene for G6PD is on X chromosome
• Jaundice,dark urine(bilirubin,hemoglobin),
• Red cells appear blistered
• G6PD levels may be normal with hemolysis
• TherapyPRBC,IVF,urine alkalinisation
• Preventionavoid oxidants,fava beans,henna

70
(No Transcript)