diagnóstico de hemoglobinopatías haemoglobinopathy diagnosis · diagnóstico de...
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![Page 1: Diagnóstico de hemoglobinopatías Haemoglobinopathy diagnosis · Diagnóstico de hemoglobinopatías Haemoglobinopathy diagnosis María del Mar Mañú Pereira Eritropatología –](https://reader031.vdocuments.net/reader031/viewer/2022022615/5ba2865e09d3f26f6e8bfd9a/html5/thumbnails/1.jpg)
3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Diagnóstico de hemoglobinopatíasHaemoglobinopathy diagnosis
María del Mar Mañú PereiraEritropatología – Red cell Lab
Hospital Clínic i Provincial de Barcelona
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Normal gen
Mutated gen
Inheritance Pattern
Sickle cell disordersAnemia falciforme
ThalassaemiaTalasemia
25%
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Haemoglobin species
Globin chains Period when normally present
A α2 β2 Major haemoglobin in adult life
A2 α2 δ2 Minor haemoglobin in adult life
F α2 Gγ2 o α2 Aγ2 Major haemoglobin in fetal life/
Minor haemoglobin in adult life
Locus α-globin (Cr 16)
5’ HS40 ζ ψζ ψα2 ψα1 α2 α1 θ 3’
Perutz 1962
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Locus β-globin (Cr 11)
5’ LCR ε Gγ Aγ ψβ δ β 3’
Haemoglobin species
Globin chains Period when normally present
A α2 β2 Major haemoglobin in adult life
A2 α2 δ2 Minor haemoglobin in adult life
F α2 Gγ2 o α2 Aγ2 Major haemoglobin in fetal life/
Minor haemoglobin in adult life
Perutz 1962
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
HbS, C, D y E
βX
β
Red cell
Membrane
Enzymes
Haemoglobin
Structural Haemoglobinopathies
Thalasaemias
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
α-thalassaemiaβ-thalassaemiaδβ-thalassaemia
β+
β
HbS, C, D y E
Red cell
Membrane
Enzymes
Haemoglobin
Structural Haemoglobinopathies
Thalasaemias
β
β0
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Isoelectricfocusing (IEF) Citrate Agar Electrophoresis
High Performance Liquid Cromatography (HPLC)
Capillary Electrophoresis (CE)
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
HPLC- Normal
2,5%
0,3%
85,3%
HbA α2β2 95-98%HbA2 α2δ2 <3.5%HbF α2γ2 <2.0%
F
A
A2
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
High risk Moderate risk Non risk
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
40-45% HbS
Heterocygote S
β S
αα
αα
42,5%
57,5%
5’ LCR ε Gγ Aγ ψβ δ β 3’
F
A
A2
S
β
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
100% HbS
Homocygote S
β S
β S
αα
αα
96,4%
3,6%
F A??
A2
S
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Compound heterozygote S/ β0 , δβ0 o PHHF
100% HbSβ 0
β S
αα
αα
91,9%8,1%
F
A?? A2
S
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Compound heterozygote S/ β+
β+
β S
αα
αα>50% HbS
76,9%
23,1%
F
A A2
S
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
<35% HbS
Compound heterozygote S/ α-thalassaemia
β
β S
αα
α-
26,7%73,3%
A S
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
50% HbS 50% HbC
Compound heterozygote S/C
βC
βS
αα
αα
55,67%44,33%
CS
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
5’ LCR ε Gγ Aγ ψβ δ β 3’
HbA2 >3,4%
HbF > 2,0%
β-thalassaemia carrier
4,4%
4,9%
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
δβ-thalassaemia carrier
2,7%
8,3%
5’ LCR ε Gγ Aγ ψβ δ β 3’
HbA2 <3,4%
HbF 7-15%
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Compound heterozygote β0 / β0 , δβ0 o PHHF
0% HbAβ 0
αα
αα
94,8%2,3%
F
A2
β 0
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier HbS β- Tal δβ- Tal Hb Lep HbE HbO HbC HbD HPPF NP
Mother Hb S
β- TAL
δβ- TAL
Hb Lepore
Hb E
Hb OArab
Hb C
Hb D
HPPF
NP
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Heterocygote Hb Lepore
HPLC: HbA2 10-15%
Increased HbA2
Heterocygote HbE
HPLC: HbA2
>20%
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Father
Carrier αα/αα αα/α- αα/--
Mother αα/αα
αα/α-
αα/--
Alpha thalassaemia
High risk Moderate risk Non risk
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
α-thalasaemia- HbH
β
β
- -
- α
HbH
10,4%
0,9%
10,6%
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Genetic diagnosis
More than one deffect associated HbS/β-thal β-thal/ α-thal/ δβ-thal Unknown haemoglobinopathies Silent β-thal/ β++-thal
Father not available Rare Hb S variants with clinical manifestation
HbS Antilles/ HbS Oman Prenatal diagnosis Preimplantation genetic diagnosis (PGD)
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3rd European Symposium on Rare Anaemias1st Spanish Thalassaemic meeting for patients and health professionals
Eritropatología- ENERCA
Dr Joan Lluis Vives Corrons Dr María del Mar Manú PereiraMontse CorbellaEstefanía GarcíaJessica AbadLaura Olaya Costa
Hospital Clínic i Provincial de Barcelonac/ Villarroel 170- Escalera 9 Planta 008036 BarcelonaTelf 932271739
Muchas gracias - Thank you very much - Moltes gràcies