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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
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%
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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
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
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
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
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%
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
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%
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
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
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
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%
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
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%
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)
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
