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Thalassemia
Download more documents and slide shows on The Medical Post [ www.themedicalpost.net ]
Dr. Kalpana MallaMD Pediatrics
Manipal Teaching Hospital
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• VON JAKSCH ANEMIA• COOLEY’S ANEMIA
• “THALASSA” : GREEK WORD - GREAT SEA – first observed - MEDITTERANIAN SEA
AKA
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THALASSEMIA
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• Thalassemia sydromes are a heterogenous group of inherited anemias characterised by reduced or absent synthesis of either alpha or Beta globin chains of Hb A
• Most common single gene disorder
DEFINTION
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1. Hb A - 2 α and 2 β chains forming a tetramer• 97% adult Hb• Postnatal life Hb A replaces Hb F by 6 months2. Fetal Hb – 2α and 2γ chains• 1% of adult Hb• 70-90% at term. Falls to 25% by 1st month and
progressively3. Hb A2 – Consists of 2 α and 2 δ chains• 1.5 – 3.0% of adult Hb
BASICS - 3 types of Hb
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INHERITANCE
• Autosomal recessive
• Beta thal - point mutations on chromosome 11
• Alpha thal - gene deletions on chromosome 16
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• If synthesis of α chain is suppressed – level of all 3 normal Hb A (2α ,2β),A2 (2α ,2 δ),F(2α ,2γ) reduced – alpha thalassemia
• If β chain is suppressed - adult Hb is suppressed - beta thalassemia
Classification
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• α-thalassemia Hb H (β4)
Hb-Bart’s ( 4ץ )
• β-thalassemia• β+ thal : reduced synthesis of β globin chain,
heterozygous• β 0 thal : absent synthesis of β globin chain,
homozygous------ Hb A - absent Hb F (α2 2ץ )
Hb A2 (α2 δ2)
CLASSIFICATION
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CLASSIFICATION OF β THALASSEMIA
CLASSIFICATION GENOTYPE CLINICAL SEVERITY
β thal minor/trait β/β+, β/β0 Silent
β thal intermedia β+ /β+, β+/β0 Moderate
β thal major β0/ β0 Severe
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NO. OF GENES PRESENT
GENOTYPE CLINICAL CLASSIFICATION
4 genes αα/αα Normal3 genes αα/- α Silent carrier2 genes - α/- α
or αα/- - α thalassemia trait
1 gene -α/- - Hb H Ds0 genes - -/- - Hb Barts / Hydrops
fetalis
α-thalassemia
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• α Thalassemia• β Thalassemia• γ Thalassemia• δ Thalassemia• δ β Thalassemia• εγδβ Thalassemia
• Hereditary Persistence of Fetal Hb (HPFH)
• Hemoglobin Lepore syndrome
• Sickle cell Thalassemia• Hb C Thalassemia• Hb D Thalassemia
(Punjab)• Hb E Thalassemia
CLASSIFICATION OF THALASSEMIAS
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• 1.Promoter region mutations -> Transcription defects• 2.Chain terminator mutations -> Translation defects• 3.Splicing mutations -> RNA splicing
defects (processing defects)
MOLECULAR PATHOGENESIS
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• Since ẞ chain synthesis reduced -1. gamma 2ץ and delta δ2 chain combines
with normally produced α chains ( Hb F (α2 2ץ ) , Hb A2 (α2 δ2) - Increased production of Hb F and Hb A2
2. Relative excess of α chains → α tetramers forms aggregates →precipitate in red cells → inclusion bodies → premature destruction of maturing erythroblasts within the marrow (Ineffective erythropoiesis) or in the periphery (Hemolysis)→ destroyed in spleen
PATHOPHYSIOLOGY
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Anemia result from lack of adequate Hb A → tissue hypoxia→↑EPO production → ↑ erythropoiesis in the marrow and sometimes extramedullary → expansion of medullary cavity of various bones
Liver spleen enlarge → extramedullay hematopoiesis
PATHOPHYSIOLOGY
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• Pathological fractures due to cortical thinning• Deformities of skull and face• Sinus and middle ear infection due to
ineffective drainage • Folate deficiency• Hypermetabolic state -> fever, wasting• Increased absorption of iron from intestine
EFFECTS OF MARROW EXPANSION
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HEPATOMEGALY• Extra medullary erythropoeisis• Iron released from breakdown of
endogenous or transfused RBCs cannot be utilized for Hb synthesis – hemosiderosis
• Hemochromatosis• Infections – transfusion related - Hep B,C,
HIV• Chronic active hepatitis
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• Extra medullary hematopoeisis• Work hypertrophy due to constant
hemolysis• Hypersplenism (progressive
splenomegaly)
SPLENOMEGALY
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• Unconjugated hyperbilirubinemia - hemolysis• Hepatitis - transfusion, hemochromatosis• GB stones - obstructive jaundice• cholangitis
JAUNDICE
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• Poor nutrition• Increased iron in body• Blockage of monocyte-macrophage
system• Hypersplenism- leukopenia• Infections associated with transfusions
INFECTIONS -CAUSES
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• Deposition in pituitary - endocrine disturbance - short stature, delayed puberty, poor sec. sexual characteristics
• Hemochromatosis - cirrhosis of liver• Cardiomyopathy (cardiac hemosiderosis) -
cardiac failure, sterile pericarditis, arrythmias, heart block
• Deposition in pancreas -diabetes mellitus
ACCUMULATION OF IRON
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• Lungs: restrictive lung defects• Adrenal insufficiency• Hypothyroidism, hypoparathyroidism• Increased susceptibity to infections (iron
favours bacterial growth) espc : Yersinia infections
ACCUMULATION OF IRON
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INFANTS:• Age of presentation: 6-9 mo (Hb F replaced by
Hb A)• Progressive pallor and jaundice• Cardiac failure• Failure to thrive, gross motor delay• Feeding problems• Bouts of fever and diarrhea• Hepatosplenomegaly
CLINICAL FEATURES (THAL MAJOR)
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BY CHILDHOOD:Growth retardationSevere anemia-cardiac dilatationTransfusion dependantIcterus Changes in skeletal system
CLINICAL FEATURES (THAL MAJOR)
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CHIPMUNK FACIES (HEMOLYTIC FACIES):• Frontal bossing, maxillary hypertrophy, depression of nasal
bridge , Malocclusion of teethPARAVERTEBRAL MASSES:• Broad expansion of ribs at vertebral attachment• ParaparesisPATHOLOGICAL FRACTURES:• Cortical thinning• Increased porosity of long bones DELAYED PNEUMATISATION OF SINUSES
PREMATURE FUSION OF EPIPHYSES - Short stature
SKELETAL CHANGES
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Others
• Delayed menarche• Gall-stones, leg ulcers• Pericarditis• Diabetes/ cirrhosis of liver• Evidence of hypersplenism
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• Moderate pallor, usually maintains Hb >6gm%• Anemia worsens with pregnancy and
infections (erythroid stress)• Less transfusion dependant• Skeletal changes present, progressive
splenomegaly• Growth retardation• Longer survival than Thal major
CLINICAL FEATURES (THAL INTERMEDIA)
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• Usually ASYMPTOMATIC• Mild pallor, no jaundice• No growth retardation, no skeletal
abnormalities, no splenomegaly• MAY PRESENT AS IRON DEFICIENCY ANEMIA
(Hypochromic microcytic anemia)• Unresponsive/ refractory to Fe therapy• Normal life expectancy
CLINICAL FEATURES (THAL MINOR)
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DIAGNOSIS - BLOOD PICTURE
• Hb – reduced (3-9mg/dl)• RBC count – increased• WBC, platelets – normal• RBC indices – MCV & MCH,MCHC
reduced, RDW normal
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• PS: microcytic hypochromic anemia, anisopoikilocytosis, target cells, nucleated RBC, leptocytes, basophilic stippling, tear drop cells
• Cytoplasmic incl bodies in α thal• Post splenectomy : Howell-Jolly and Heinz
bodies• Reticulocyte count increased (upto 10%)
BLOOD PICTURE
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DIAGNOSIS
• Osmotic fragility test : increased- resistance to h’lysis
• T. bilirubin, I. bilirubin – increased • Haptoglobulin and hemopexin – depleted• S. Fe, ferritin elevated, Transferrin –
saturated• B.M. study: hyperplastic erythropoesis
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• Red cell survival – decreased using• Folate levels- concurrently decreased• Free erythrocyte porphyrin - normal• Serum uric acid-raised• Haemosiderinuria
DIAGNOSIS
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DIAGNOSIS – Hb ELECTROPHORESISThal. Major - Hb F: 98 % Hb A2: 2 % Hb A: 0 % HEMOGLOBIN MAJOR MINOR NORMAL
Hb F 10-98% variable <1%
Hb A Absent 80-90% 97%
Hb A2 variable 5-10% (increased) 1-3%
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• Small bones (hand ) – earliest bony change, rectangular appearance,medullary portion of bone is widened &bony cortex thinned out with coarse trabecular pattern in medulla
• Skull – widened diploid spaces – interrupted porosity gives hair on end appearance
• Delayed pneumatization of sinuses – maxilla appears overgrown with prominent malar eminences
Radiological changes
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X ray skull:
“ hair on end” appearance
or“crew-cut” appearance
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IRON OVERLOAD ASSESSMENT
• S. Ferritin• Urinary Fe excretion• Liver biopsy• Chemical analysis of tissue Fe• Endomyocardial biopsies• Myocardial MRI indexes• Ventricular function – ECHO, ECG
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Treatment:• BT at 4-6 wks interval (Hb~ 9.5 gm/dl) Packed RBC, leucocyte-poor• Hb to be maintained – • Hypertransfusion : >10 gm/dl• Supertransfusion : >12 gm/dl• If regular transfusions- no hepatomegaly, no
facies• 10-15ml/kg PRBC raises Hb by 3-5gm/dl – Neocytes transfusion• Mean cell age : 30 days• 2-4 times more expensive
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• ( 1 unit of blood contains 250 mg iron)• Iron-chelating agents: desferrioxamine-• Dose: 30-60mg/kg/day• IV / s/c infusion pump over 12 hr period 5-6
days /wk• Start when ferritin >1000ng/ml• Best >5 yrs• Vitamin C 200 mg on day of chelation -
enhances DFO induced urinary excretion of Fe
CHELATION THERAPY - DESFERRIOXAMINE
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Cardiotoxicity – arrythmiasEyes - cataract Ears - sensorimotor hearing loss Bone dysplasia-growth retardationRapid infusion- histamine related
reaction- hypotension, erythema, pruritis
Infection, sepsis
Adverse effects: DESFERRIOXAMINE
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CHELATION THERAPY- DEFERIPRONE• Oral chelator - > 2yrs old Dose: 50-100mg/kg/day• Adverse effects:Reversible arthropathy Drug induced lupusAgranulocytosis
• Other oral chelatorsDeferrothiocinePyridoxine hydrazineICL-670 – removes Fe from myocardial cells
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TREATMENT - SPLENECTOMY
• Deferred as long as possible. At least till 5-6 yrs age
• Splenectomy (indications):• Massive splenomegaly causing mechanical
discomfort• Progressively increasing blood transfusion
requirements (>180-200 ml/kg/yr) packed RBC
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BONE MARROW TRANSPLANTATION• BEST METHOD FOR CURE• Risk factors: Hepatomegaly >2cmPortal fibrosisIron overloadOlder age
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Newer therapies:• GENE MANIPULATION AND REPLACEMENT• Remove defective β gene and stimulate γ gene• 5-azacytidine increases γ gene synthesis
• Hb F AUGEMENTATION• Hydroxyurea• Myelaran• Butyrate derivatives• Erythropoetin in Thal intermedia
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OTHER SUPPORTIVE MEASURES• Tea – thebaine and tannins– chelate iron• Vitamin C – increases iron excretion• Restrict Fe intake – decrease meat, liver, spinach• Folate – 1 mg/day• Genetic counselling• Psychological support• Hormonal therapy – GH, estrogen, testosterone, L-
thyroxine• Treatment of CCF
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Prognosis:
• Life expectancy: 15-25 yrs• Untreated: < 5 yrs
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PRENATAL DIAGNOSIS• β/α ratio: <0.025 in
fetal blood – Thal major• Chorionic villous biopsy
at 10-12 wks• amniocentesis at 15-
18th wk gestation Analysis of fetal DNA
• PCR to detect β globin gene
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Prevention:
• Antenatal diagnosis• Termination of pregnancy if Thal major• Preventing marriage b/w traits
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Thalassemia minor/ trait:• Hb N or mildly reduced - MCV/ MCH reduced• PBS- anisopoikilocytosis, microcytosis,
hypochromia, target cells• Serum bilirubin- N or mildly raised• Hb electrophoresis • HbA2: 3.5- 7 %• Hb A: 90-95 %• Hb F: 1-5 %• Moderate reduction of β-chain synthesis
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Treatment:
• Counselling- treatment usually not required
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α-thalassemia:
• Deletion on alpha globin locus on Chr 16• Defective synthesis of α-globin chain • Excess of ץ- chains - in the fetus (Hb Bart- 4ץ )Excess of β-chains in the adult (Hb H- β4)
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CLINICAL CLASSIFICATION
GENOTYPE NO. OF GENES PRESENT
Silent carrier αα/- α 3 genes
α thalassemia trait - α/- α or αα/- - 2 genes
Hemoglobin H disease -α/- - 1 gene
Hb Barts / Hydrops fetalis
- -/- - 0 genes
ALPHA THALASSEMIA - CLASSIFICATION
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• Highest prevalence in Thailand• α chains shared by fetal as well as adult life. Hence
manifests both times• These thalassemias don’t have ineffective
erythropoesis because β and γ are soluble chains and hence not destroyed always
• α Thalassemia trait mimics Fe deficiency anemia• Silent carrier – silent – not identified
hematologically, diagnosed when progeny has Hb Barts/ Hb H
ALPHA THALASSEMIA
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• Silent carrier – asymptomatic ,no RBC abnormalities
• Trait – aymptomatic , minimal anemia
ALPHA THALASSEMIA
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• Seen in SEA, middle east• Moderate anemia (Hb 8-9 gm/dl), mild jaundice• Splenomegaly, gall stones• PBS similar to thal major• Hb electrophoresis: Hb H 2-40 %; rest are Hb A,
HbA2, HbF • Not very transfusion dependant• Bony deformities
Hb H DISEASE
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Hb BARTS • Hb Barts has γ4, then later in infancy β4 • Severe hypoxia as Hb Barts has high affinity for
oxygen
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Haemoglobin Bart’s:• Most severe manifestation of alpha thalassemia• Hydrops fetalis – Fatal unless intrauterine transfusions• Stillborn or die within a few hours• Severe anemia , edematous, mildly jaundiced,
ascites, hepatosplenomegaly, cardiac failure• Looks like Rh incompatilibity• Increased incidence of toxemia of pregnancy
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• DIAGNOSIS
• Hb electrophoresis: 80-90 % Hb Bart’s Hb H Hb Portland No Hb A, Hb A2 or Hb F• Treatment: immediate exchange transfusion
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• CBC, PS, BM study• Heinz bodies in HbH disease – brilliant cresyl
blue• Hb electrophoresis – for HbH and Hb Barts • α/β chain ratio decreased
DIAGNOSIS OF α THALASSEMIA
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Treatment:
• Generally not reqd• Blood transfusion , iron chelation therapy –
For transfusion dependent cases• Avoidance of oxidant drugs• Prompt treatment of infections• Folic acid supplementation• Splenectomy • BM transplantation, gene therapy
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