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Is genetic disorder in globin chain production Thalassemia Syndrome

Either alpha thalas . , B -thal . , Sickle thalass . .
B -thal. Resulting from deletion or mutation , while
alpha thal . Resulting mainly from deletion .
Homozygous B -thal ( B -thal major or cooleys anemia )
:---
C \f : -----
1 - progressive anemia with profound weakness &
cardiac decompensation during the second 6 - month of
life if not treat ( most infant & children have cardiac
decompensation of Hb of 4 gm/ dl or less ..
2 - hepato splenomegaly ( spleen may become so
enlarge causing discomfort & even hypersplenism
which defined by increased requirement of packed
R. B. C. of more than 240 cc/ kg/ year .
3 -generally fatigue , poor appetite & lethargy are late
finding of sever anemia in an infant or child .
4 - late finding of disease developed: ---
a - bronze skin ( greenish brown complexion as result
from combination of pallor , jaundice and hemosiderosis .
b - repeated blood transfusion resulting iron
overload

Thalassemic pictures

• .

Effect of excess production of free globin chain ( B -thal. )

pathophysiology in over head
• Lab Finding : ---
• 1 - anemia : - decrease Hb & elevation of retic count ( of less than
8 %) with normal WBC, elevation of unconjugate bilirubin .
2 -Hb -electropheresis is diagnostic ( Hb F may reached 98 % & A 2 2 % .
• 3 - if no treatment well resulting B. M. expansion .
• X -Ray finding as Hair on end appearance .
• 4 - with frequent blood transfusion lead to increase iron in body
which measure by S. ferritin .
• DD : ----
A - other causes of hypochromic microcytic anemia ( IDA , lead & copper
poisoning & pyredoxine deficiency.
B - anemia with increase retic count ( thalass. Intermedia , SCA, HbC , HbS ,
HbE & auto immune hemolytic anemia ).
C - anemia with low retic count .( aplastic anemia as black fan diamond
syndrome & fanconi anemia )
D - cong. Spherocytosis .

Lab finding in thalassemia .

• .

Treatment of thalassemia

• 1 - blood transfusion :--
• aim of blood transfusion is to promote general health & well being
& avoid the consequences of ineffective erythropoiesis
• Blood transfusion in a dose of 20 cc/ kg given within 4 -6 hr to
maintain Hb level in normal range that not result in B. M. expansion
i.e pre transfusion is more than 9.5 gm/ dl – 10.5 gm/ dl is good .
• 2 - treatment of iron overload : ---
• iron overload is measured by 1 - s - ferritin
• 2 - liver biopsy supplemented by
ferritometry.
• 3 - T 2 weighted MRI imaging .
• Hemosiderosis is prevented by using chalating tharapy (
desferioxamine to form desferal – iron complex which excreted by
urine & stool & inhance its excretion by vit C

Indication of desferal therapy : -

1-if s. ferritin of more than 1000 nano gram/ dl
2-if s. ferritin is not available , we depend on no. of blood transf. 10 — 20 time or
3— 5 year from onset of blood transfusion .
Desferal givenby special pump ( S. C.) IN a dose 20 -50 mg | kg \day
• And S . T. increase dose to 100 mg \kg if :---
• 1-cardiomyopathy . 2-if s. ferritin of more than 2500 nanogram \dl .
• S . E .:-- ototoxicity , retinal change , bone dysplasia with truncal shortening .
• Oral iron chelator ( defriprone ) : -- is not effective as desferal but more effective in
removing cardiac iron .
S . E MAY associated with neutropenia , arthritis , hepatic fibrosis . --- -also now :
used oral desferasirox ( Exjade ) which better for compliance , optimum dose is well
defined as maintanance dose between 30 -- < 40 mg/ kg/ day ( starting dose at
20 mg/ kg/ day and increased dose 5— 10 mg/ kg every 3-6 month depend on S. ferritin
and safety of drug .
• 3-splenectomy : -indicated in following :--
• 1-hypersplenism 2-thal. Intermedia with falling steady state of height .
• Before splenectomy ; -- pts should receive pneumo coccal & meningococcal vaccine
.& then kept on prophylaxis pencilin therapy .
• 4-B. M transplantation to cure pts .( hemapoitic stem cell transplant which most
success if pt of less than 15 year of age , not excess of iron store or hepatomegally .

• major intermedia

• A-Clinical presentation : --
• Age
• less than 2year more than 2 year
• Hb level less than 7 gm 8-10 gm
• HSM sever moderate to sever
• iron overload after 10 -20 units of blood may presented at time of
• transfusion diagnosis
• B-hematologica l ;--
• HbF More than 50 % less than 50 %
• HbA 2 less than 4 more than 4
• C-genetic parents
• both carrier with high HbA 2 one or both atypical
• carrier of high Hbf
• B-thal. & borderline A 2
• --5-
Thalass. Intermedia
c riteria to differentiated between major & intermedia

Alpha thalassemia

• Depend on gene geletion : ---
• A - deletion of one gene called silent trait ( carrier ) : - has no symptoms .
• B - deletion of 2 gene called thalass. Trait : -- has mild anemia ( Barts Hb is 5 -
10 % ) .
• C - deletion of 3 gene called Hb -H Dis. : -- has marked anemia .
• is generally asymptomatic with moderate anemia , mild splenomegally ,
occasionally jaundice or gall stone .
• transfusion is not usually reguired for treatment of anemia .
• brilliant cresyl blue can stain Hb -H .
• D - deletion of 4 gene ( Hydrops fetalis ) .
• has 80 -90 % of Barts Hb with Gower 1 , 2 & portland Hb
• -----------------------------------------------------------------------------------------------------
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• -6 -

Transfusion Reaction

adverse events associated with transfusion include : ---
• 1– non hemolytic febrile reaction .
• 2– allergic reaction .
• 3– anaphylactic reaction .
• 4– auto immune hemolytic anemia .
• 5– delayed transfusion reaction .
• Major complication of thalassemia : ---
• A-excess erythropoisis : --- 1-bone changes to face .
• 2-bone : -cortical thining & risk of
fracture .
• 3-spinal cord compression .
• 4-LAP especially mediastinum & HSM
• B-iron over -load .
• C -endocrine failure like short stature , delayed puberty, D. M, hypothyriodism & hypo -
parathyridism ,
• d-cardiac complication .
• e-hepatic involvoments .
• f-chronic hemolysis . – gall stone .
• g-infection

• thank you
• --- 7---


رفعت المحاضرة من قبل: Ahmed monther Aljial
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