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SCDAA 40 th Anniversary Convention 2012 . Genetic Counseling for the Future. Kwaku Ohene-Frempong, MD Children’s Hospital of Philadelphia Sickle Cell Foundation of Ghana. Genetic Counseling for the Future. Genetic Counseling for the Future. Hemoglobin Molecule. 1 pair of  -like globins.

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SCDAA 40 th Anniversary Convention 2012


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slide1

SCDAA 40th Anniversary Convention 2012

Genetic Counseling for the Future

Kwaku Ohene-Frempong, MD

Children’s Hospital of Philadelphia

Sickle Cell Foundation of Ghana

slide4

Hemoglobin Molecule

1 pair of -like globins

+ 1 pair of -like globins

-like globin: 141 amino acids

-like globin: 146 amino acids

Heme + Globin= Hemoglobin (Hb)

Heme is an iron compound; globinis a protein

Globins in hemoglobin

Hb tetramer

slide5

Genetics of Hemoglobinopathies

Human Hemoglobin Genes and Products

Chromosome 16 Globin proteins Chromosome 11

Chromosome 16 Globin proteins Chromosome 11

Chromosome 16 Globin proteins Chromosome 11

Hemoglobins: Birth > 1 yr

F: a2 g2 60-90% < 2%

A2: a2 d2 < 1% 2-3%

A: a2 b210-40% 96%

“Embryonic”

“Fetal”

“Minor adult”

-globin gene family

b-globin gene family

“Major adult”

molecular pathology of scd hemoglobin genes and products in scd ss

Sickle Cell Disease: Pharmacologic Treatment

Gower 1: z2 e2

Gower 2: a2 e2

Portland: x2 g2

------------------

F: a2 g2

A2: a2 d2

S:a2 bs2

2-20%

3%

80-95%

Hemoglobins in SS by age > 1 yr

Molecular pathology of SCDHemoglobin Genes and Products in SCD-SS
slide7

A

A

S

S

C

C

C

A

S

A

A

A

S

S

S

C

(AA)

slide8

A

S

A

A

C

C

S

A

A

S

A

A

S

C

S

A

A

S

S

C

(AA)

slide9

Genetic Counseling for the Future

Outline

  • Definition of Genetic Counseling
  • Genetic Counseling and the Modern Family
  • Modern Genetics of Sickle Cell Disease
  • Common Variants of Sickle Cell Disease
  • Diagnostic Tests for Hemoglobin Disorders
  • Inheritance of Sickle Cell Disease
slide10

Genetic Counseling for the Future

Definition of Genetic Counseling

  • Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
  • This process integrates the following:
  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
  • Education about inheritance, testing, management, prevention, resources and research.
  • Counseling to promote informed choices and adaptation to the risk or condition

National Society of Genetic Counselors, 2006

slide11

Genetic Counseling for the Future

Definition of Genetic Counseling

  • Genetic counseling is the process through which knowledge about the genetic aspects of illnesses is shared by trained professionals with those who are at an increased risk for either having a heritable disorder or of passing it on to their unborn offspring.
  • A genetic counselor
  • provides information on the inheritance of illnesses and their recurrence risks;
  • addresses the concerns of patients, their families, and their health care providers; and
  • supports patients and their families dealing with these illnesses

WHO: http://www.who.int/genomics/professionals/counselling/en/

(accessed 9-17-12)

slide12

Genetic Counseling for the Future

Genetic Counseling and the Modern Family

  • Traditional models:
    • Married couple – pre-pregnancy, with or without affected child;
    • Single adult seeking counseling for possible risk
  • Modern models:
    • Married couple – pre-pregnancy, with or without affected child;
    • Single adult seeking counseling because possible risk

WHO: http://www.who.int/genomics/professionals/counselling/en/

(accessed 9-17-12)

slide13

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

A

S

A

A

S

A

A

A

S

… they can have a baby with no abnormal hemoglobin.

A

A

(AA)

slide14

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

A

S

A

S

S

A

A

A

S

…… they can have a baby with sickle cell trait (AS)

A

S

(AS)

slide15

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

A

S

A

A

S

A

S

A

S

…… they can have a baby with sickle cell trait (AS)

S

A

(AS)

slide16

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

A

S

A

S

S

A

S

A

S

…… they can have a baby with sickle cell disease SS

S

S

(SS)

slide17

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

A

S

each and every time they make a baby,

the baby may have ….

A

S

A

S

S

A

S

A

S

A

(AA)

(AS)

(AS)

(SS)

slide18

b0

bC

b+

bA

bC

bS

bA

bS

bC

bA

bS

bA

bA

bA

bA

bA

bA

bA

b0

bC

bS

bC

bA

bS

b0

b+

bA

bS

b0

bC

b+

(AA)

slide19

Inheritance of Sickle Cell Disease

When both parents have no abnormal hemoglobins or

thalassemia, …

bA

bA

bA

bA

bA

bA

bA

bA

bA

..all babies they make will have normal hemoglobins.

bA

bA

(AA)

slide20

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

bA

bS

bA

bA

bS

bA

bA

bA

bS

… they can have a baby with no abnormal hemoglobin.

bA

bA

(AA)

slide21

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

bA

bS

bA

bA

bS

bS

bA

bA

bS

…… they can have a baby with sickle cell trait (AS)

bA

bS

(AS)

slide22

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

bA

bS

bA

bA

bS

bA

bS

bA

bS

…… they can have a baby with sickle cell trait (AS)

bS

bA

(AS)

slide23

Inheritance of Sickle Cell Disease

When both parents have Sickle Cell Trait (AS)…..

bA

bS

bA

bA

bS

bS

bS

bA

bS

…… they can have a baby with sickle cell disease SS

bS

bS

(SS)

slide24

Inheritance of Sickle Cell Disease

When one parent has Sickle Cell Trait (AS), and the other has hemoglobin C trait (AC)...

bA

bS

(No S)

bC

bA

… each and every time they make a baby,

the baby may have ….

bA

bS

bS

bA

bA

bA

bC

bC

(AA)

(AS)

(AC)

(SC)

slide25

Inheritance of Sickle Cell Disease

When one parent has beta-zero thalassemia trait,

and the other has Sickle Cell Trait (AS)

bA

b0

bA

bA

bS

bA

bA

bA

b0

… they can have a baby with no abnormal hemoglobin.

bA

bA

(AA)

slide26

Inheritance of Sickle Cell Disease

When one parent has beta-zero thalassemia trait,

and the other has Sickle Cell Trait (AS), …..

bA

b0

bA

bA

bS

bS

bA

bA

b0

… they can have a baby with sickle cell trait (AS).

bA

bS

(AS)

slide27

Inheritance of Sickle Cell Disease

When one parent has beta-zero thalassemia trait,

and the other has Sickle Cell Trait (AS) …..

bA

b0

bA

bA

bS

bA

b0

bA

b0

..they can have a baby with beta-zero thalassemia trait.

b0

bA

(Ab0)

slide28

Inheritance of Sickle Cell Disease

When one parent has beta-zero thalassemia trait,

and the other has Sickle Cell Trait (AS), …..

bA

b0

bA

bA

bS

bS

b0

bA

b0

they can have a baby with S beta-zero thalassemia.

b0

bS

(Sb0 thal)

slide29

Inheritance of Sickle Cell Disease

When one parent has beta-zero thalassemia trait,

and the other has Sickle Cell Trait (AS), …..

bA

b0

(No S)

bA

bS

Each and every time they make a baby,

the baby may have ….

b0

bA

bA

b0

bS

bA

bS

bA

(Ab0thal)

(Sb0thal)

(AA)

(AS)

slide30

Inheritance of Sickle Cell Disease

When one parent hasSickle Cell Trait (AS),

and the other has hemoglobin C trait (AC), …..

bA

bC

(No S)

bA

bS

… each and every time they make a baby,

the baby may have ….

bC

bA

bA

bC

bS

bA

bS

bA

(AC)

(SC)

(AA)

(AS)