hemoglobinopathies. hemoglobinopathies disorders of hemoglobin dr. pupak derakhshandeh
TRANSCRIPT
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HemoglobinopatHemoglobinopathieshies
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HemoglobinopatHemoglobinopathieshies
Disorders of Disorders of HemoglobinHemoglobin
Dr. Pupak DerakhshandehDr. Pupak Derakhshandeh
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Disorders of Disorders of HemoglobinHemoglobin
5 % of world population: 5 % of world population: carrier for genes, carrier for genes, important disorders of important disorders of hemoglobinhemoglobin
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Structure and Structure and function of function of hemoglobinhemoglobin
Oxygen carrierOxygen carrier In vertebrate: red In vertebrate: red blood blood cellscells
Four subunits: Four subunits: 22αα- and 2- and 2-chains-chains
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HemoglobinHemoglobin
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Each SubunitsEach Subunits
Globin: Polypeptide chainGlobin: Polypeptide chain Heme : Prosthetic groupHeme : Prosthetic group
(Iron-Containing (Iron-Containing pigment)pigment)
Heme + OxygeneHeme + OxygeneOxygene transportingOxygene transporting
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Normal adult Normal adult hemoglobinhemoglobin
HbAHbA::
22 αα globin chain (141 AA) globin chain (141 AA) 2 2 globin chain (146 AA) globin chain (146 AA) αα2222
Equal lengthEqual length
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Normal adult Normal adult hemoglobinhemoglobin
HbFHbF::
22 αα globin chain globin chain 2 2 γγ globin chain globin chain αα22γγ22
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Normal adult Normal adult hemoglobinhemoglobin
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Hemoglobin in the Hemoglobin in the OntogenesisOntogenesis
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ThalassemiThalassemiaa Onset: ChildhoodOnset: Childhood
Hypo chromic / Microcrystal Hypo chromic / Microcrystal anemiaanemia
Low level of MCV / MCHLow level of MCV / MCHMean corpuscular volume (MCV)Mean corpuscular hemoglobin (MCH)
-Thal: Elevated HbA-Thal: Elevated HbA2 2 ((αα2222))
HbF (HbF (αα22γγ22)) αα-Thal: Normal HbA-Thal: Normal HbA22, HbF , HbF
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Thalassemia Thalassemia MinorMinor
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Thalassemia MinorThalassemia Minor
• Thalassemia minor is an inherited form of hemolytic anemia that is less severe than thalassemia major.
• This blood smear from an individual with thalassemia shows small (microcytic), pale (hypochromic), variously-shaped red blood cells.
• These small red blood cells (RBCs) are able to carry less oxygen than normal RBCs.
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Thalassemia Thalassemia MajorMajor
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an inherited form of hemolytic anemia
red blood cell (hemoglobin) abnormalities
the most severe form of anemia
the oxygen depletion in the body becomes apparent within the first 6 months of life
Thalassemia major
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If untreated, death usually results within a few years
Note the small, pale (hypochromic), abnormally-shaped red blood cells associated with thalassemia major
The darker cells likely represent normal RBCs from a blood transfusion
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DieseaseDiesease Autosomal recessive Autosomal recessive Deficiency: Synthesis of Deficiency: Synthesis of
αα//- - globinglobin Origin: Mediteranean, Origin: Mediteranean,
African, African, Iranian, Indian, Iranian, Indian, Southeast Southeast AsianAsian
Resistant to malariaResistant to malaria
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Prevalence of Prevalence of αα--ThalassemiaThalassemia
0.01 % in non malarial 0.01 % in non malarial areasareas
ig. UK, Japanig. UK, Japan ~ 49 % in Soutwest ~ 49 % in Soutwest
Pasific Pasific IslandsIslands
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Defected globin Defected globin chainschains
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Prevalence of Prevalence of --ThalassemiaThalassemia
~ 1.5 % in Africans and ~ 1.5 % in Africans and African AmericansAfrican Americans
~ 30 % in Sardinia~ 30 % in Sardinia
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Pathogenesis Pathogenesis of of -Thalassemia-Thalassemia
In adequate Hb production Reduced MCV/MCH
Unbalanced accumulation of globin subunits Ineffective Erythrocyt
200 different mutations In Iran about 60 mutations
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αα globin globin mutationsmutations
Deletions: 80-85 % of Deletions: 80-85 % of ααThalassemiaThalassemiaDel: 3.7 kb (most frequent)Del: 3.7 kb (most frequent)Del: 4.2 kbDel: 4.2 kb
αα22 InsI-5bp deletion ( InsI-5bp deletion (ααHph1Hph1αα))
αα22 InCd T>C ( InCd T>C (ααNco1Nco1αα))
α১ Variant:Variant:--MED--MED--CAL--CAL--SEA--SEA
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-Thalassemia-Thalassemia Trait -
– Hemoglobin is with in the reference range.
– Reticulocyte count is within the reference range.
– Mean corpuscular volume (MCV) is 75-85 fL.
– Mean corpuscular hemoglobin (MCH) is 26 pg.
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a-Thalassemiaa-Thalassemia Alpha1 thalassemia minor (--/)
– Hemoglobin is within the reference range.
– Reticulocyte count is within the reference range.
– MCV is 65-75 fL.– MCH is 22 pg.
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Hemoglobin H diseaseHemoglobin H disease
Peripheral smear from a patient with hemoglobin H disease showing target cells, microcytosis and hypochromia. Morphological abnormalities are similar to those observed in beta thalassemia. In alpha2 thalassemia (silent trait) only mild microcytosis is observed.
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HbH diseaseHbH disease•Hemoglobin H disease
– Hemoglobin is 7-10 g/dL.– Reticulocyte count is 5-10%.– MCV is 55-65 fL.– MCH is 20 pg.– The peripheral blood smear shows
small misshapen red cells, hypochromia, microcytosis, and targeting.
– Brilliant cresyl blue stain demonstrates hemoglobin H inclusion bodies.
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HbH diseaseHbH disease
Functional Functional αα globinglobin : 1: 1 αα:: globin ratio : 0.3 globin ratio : 0.3 Hb level: 7-9 g/dlHb level: 7-9 g/dl Genotype: --/-Genotype: --/-αα HbH Inclusion (Heinz body): ManyHbH Inclusion (Heinz body): Many Moderate anemiaModerate anemia HepatosplenomegalyHepatosplenomegaly Galstones, infection, folic acid Galstones, infection, folic acid
deficiencydeficiency
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Hydrops fetalisHydrops fetalis
–Hemoglobin is 4-10 g/dL. –MCV is 110-120 fL. –The peripheral blood smear shows severe hypochromia, and nucleated red blood cells.
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Hydrops fetalisHydrops fetalis
Functional Functional αα globinglobin : 0: 0 αα:: globin ratio : 0.0 globin ratio : 0.0 Genotype: --/--Genotype: --/-- HbH Inclusion (Heinz body): HbH Inclusion (Heinz body):
PresentPresent Severe anemiaSevere anemia Heart defect/fatal in utero/Heart defect/fatal in utero/
shortly after birthshortly after birth
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TreatmentTreatment• Avoid iron supplementation. It contributes to
iron overload • Administer folate supplementation to provide
adequate amounts of the vitamin for increased utilization resulting from the hemolytic process and high bone marrow turnover rate.
• Provide prompt attention to infection, especially in children who have had a splenectomy.
• Administer blood transfusions only if necessary.• If chronic transfusion is needed (hemoglobin H
disease), iron chelation therapy should be considered to avoid iron overloading.
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Surgical CareSurgical CareHemoglobin H disease
– Perform a splenectomy if transfusion requirements are increasing.
– Surgical or orthodontic correction may be necessary to correct skeletal deformities of the skull and maxilla due to erythroid hyperplasia.
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globin mutationsglobin mutations
1.1. Transcriptional mutations Transcriptional mutations ((++))
In promotor regulatory In promotor regulatory elementselements -101(silent)-101(silent) -92 (silent)-92 (silent) -88-88 -30-30
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globin globin mutationsmutations
2.2. RNA-Processing ( RNA-Processing (ºº)) Splice junctionSplice junction
IVSI-1 Cd30IVSI-1 Cd30 IVSI-2 IVSI-2 IVSI-3’ end del 25bpIVSI-3’ end del 25bp IvsI-130IvsI-130
Consensus splice sites Consensus splice sites ((º/ º/ ++)) IVSI-5IVSI-5 IVSI-6IVSI-6 IVSII-844IVSII-844
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globin mutationsglobin mutations
Cryptic splice sites in Introns Cryptic splice sites in Introns ((++)) IVSI-110IVSI-110 IVSII-745IVSII-745
Cryptic splice sites in exonsCryptic splice sites in exons Cd 26 (HbE)Cd 26 (HbE) Cd 121 (HbD panjab/O Arab)Cd 121 (HbD panjab/O Arab)
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-Thalassemia -Thalassemia majormajor
Onset: 6 monthsOnset: 6 months Severe hemolytic anemiaSevere hemolytic anemia Hb level< 7 g/dlHb level< 7 g/dl Skin: paleSkin: pale Growth retardationGrowth retardation don’t eat or sleep welldon’t eat or sleep well HepatosplenomegalyHepatosplenomegaly Bone marrow expansion:Bone marrow expansion:
Make more red cellsMake more red cells Expantion in face and skullExpantion in face and skull Spleen: destroy of young red cellSpleen: destroy of young red cell 80% of untreated patients: † by 5 y.80% of untreated patients: † by 5 y. Treatment: Cardiac/Hepatic: † by 30 y.Treatment: Cardiac/Hepatic: † by 30 y. Transfusion +Chelation > 30yTransfusion +Chelation > 30y..
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Thalassemia majorThalassemia major
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Thalassemia majorThalassemia major
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TreatmentTreatment Blood transfusion (3-4 weeks for Blood transfusion (3-4 weeks for
life)life)Iron accumulation in bodyIron accumulation in body
Remove the iron: Desferal:Remove the iron: Desferal:Infused under the skin (8-12 h/6 Infused under the skin (8-12 h/6
times a week)times a week) Bone marrow transplantationBone marrow transplantation
A sib brother or sisterA sib brother or sisterHLA matchedHLA matched
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Sickle Cell disorderSickle Cell disorder
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Sickle Cell disorderSickle Cell disorder
Stuck the red cell in the vesselsStuck the red cell in the vessels In children: Spleen, chest, In children: Spleen, chest,
wrists,ankleswrists,ankles In adults: hips and shouldersIn adults: hips and shoulders Anemia (Hb 7-8 g/dl)Anemia (Hb 7-8 g/dl) Infections (take antibiotics)Infections (take antibiotics) Painful crises (6-18 months)Painful crises (6-18 months) Swollen and inflamed (hand/food Swollen and inflamed (hand/food
syndrome)syndrome)
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What are the What are the Complications?Complications?
• pain episodes • increased infections • bone damage • yellow eyes or jaundice • early gallstones • lung blockage • kidney damage and loss of body water in
urine • painful erections in men (priapism) • blood blockage in the spleen or liver
(sequestration) • eye damage • low red blood cell counts (anemia) • delayed growth
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Prenatal diagnosisPrenatal diagnosis
I. ARMS-PCR (22 common I. ARMS-PCR (22 common mut.)mut.)
II. PCR-RFLP (9 inf. RFLPs)II. PCR-RFLP (9 inf. RFLPs)
III. RDB (60 mut.)III. RDB (60 mut.)
IV. SequencingIV. Sequencing
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ARMS-PCRARMS-PCR
1 2 3 4 5 6 7 8 9 10 11 12 13
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PCR-RFLPPCR-RFLP1 2 3 M 4 5 6 7
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The combination of The combination of hemoglobinopathieshemoglobinopathies
Doesn't cause any health Doesn't cause any health problem:problem: αα+ + Thalassemia / Thalassemia / αα+ + ThalassemiaThalassemia
HbH disease:HbH disease: ααº º Thalassemia / Thalassemia / αα+ + ThalassemiaThalassemia
Hydrops fetalis:Hydrops fetalis: ααº º Thalassemia / Thalassemia / ααº º ThalassemiaThalassemia
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Doesn't cause any Doesn't cause any health problemhealth problem
αα+ / º + / º
Thalassemia/Thalassemia/ThalassemiaThalassemia αα+ / º + / º Thalassemia / HbCThalassemia / HbC αα+ / º + / º Thalassemia / HbDThalassemia / HbD αα+ / º + / º Thalassemia / HbEThalassemia / HbE αα+ / º + / º Thalassemia / HbO ArabThalassemia / HbO Arab αα+ / º + / º Thalassemia / HbSThalassemia / HbS
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Thalassemia / Thalassemia / ThalassemiaThalassemia
Caused severe Caused severe health health problem!problem!
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Other Other combinationscombinations
HbC / HbC / Thalassemia (no problem)Thalassemia (no problem) HbD / HbD / Thalassemia (no problem)Thalassemia (no problem) HbE / HbE / Thalassemia (serious anemia)Thalassemia (serious anemia) Hbs / Hbs / Thalassemia (intermediate-Thalassemia (intermediate-
severe)severe) HPFH* / HPFH* / Thalassemia (no problem)Thalassemia (no problem)
*Heriditary persistance of fetal hemoglobin*Heriditary persistance of fetal hemoglobin
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Doesn't cause any Doesn't cause any health problemhealth problem
HbC / HbCHbC / HbC HbC / D, E, O Arab, HPFHHbC / D, E, O Arab, HPFH
HbD / HbDHbD / HbD HbD / C, E, O Arab, HPFHHbD / C, E, O Arab, HPFH
HbE / HbEHbE / HbE HbE / C, D, O Arab, HPFHHbE / C, D, O Arab, HPFH
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Doesn't cause any Doesn't cause any health problemhealth problem
HbO Arab / HbO ArabHbO Arab / HbO Arab HbO Arab/ C, E, D, HPFHHbO Arab/ C, E, D, HPFH HPFH / HPFHHPFH / HPFH
HbH / HbH / Thalassemia !Thalassemia ! Thalassemia major/Thalassemia major/αα+/º +/º
Thalassemia! Thalassemia! Thalassemia major / HbC, DThalassemia major / HbC, D
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serious serious anemiaanemia
HbH / HbH / αα+/º +/º ThalassemiaThalassemia HbS / HbS / Thalassemia Thalassemia HbS / HbCHbS / HbC HbS / HbDHbS / HbD HbS / HbEHbS / HbE HbS / O ArabHbS / O Arab
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Prenatal Diagnosis Prenatal Diagnosis (PND)(PND)
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Thank forThank for
YourYour
AttentionAttention