A family of matched parent-child HLA haplotypes: A case study … · 2020-06-21 · A family of...

A family of matched parent-child HLA haplotypes:

A case study from Bahrain

Mariam Fida, MD, PhD Director | PGD

Consultant| Medical Genetics

GCC Forensics Conference & Exhibition 14.Nov.2019

HLA Typing

Match patient & donors for bone marrow, cord blood or organ transplants

HLA Complex

HLA Typing

Relatives of patient

Relatives of patient

Relatives of patient

100% match

Human Identification Test

Mother

Son

Human Identification Test

Mother

Son

Consanguinity

Extended family pedigree

Family Haplotypes

Conclusion

Sickle Cell Carrier

Sickle Cell Affected

Sickle Cell Disease

Sickle Cell Carrier

PGT

Hemophilia

Sickle Cell Disease

Colon Cancer

Breast Cancer

SCID

↓G6PD

Phynelketonuria

α-Thalassemia

β-Thalassemia

Cystic Fibrosis

Down Syndrome

Fragile X Spinal Muscular Atrophy

Polycystic Kidney Disease

A test performed to analyze the DNA from oocytes or embryos for HLA-typing or for determining genetic abnormalities

Sickle Cell Carrier

Sickle Cell Affected

Sickle Cell Disease

Sickle Cell Carrier

Sickle Cell Carrier

Sickle Cell Affected

Sickle Cell Disease

Sickle Cell Carrier

Healthy unaffected

Sickle Cell Carrier

Sickle Cell Affected

Sickle Cell Disease

Sickle Cell Carrier

Healthy unaffected

HLA match to affected sibling

IVF

PGT

PGT - M

(day 3)

IVF

PGT

PGT - M

(day 3)

IVF

PGT

PGT - M

(day 3)

IVF

PGT

PGT - M

(day 3)

Transfer into mother

Acknowledgment

Ryan Ed Bangate

Ferdinand Webnda

Arnold A. Villanueva

PGT Team

Thank you!