Jennifer G.R. Kromberg

The impact of stigma on people with albinism in Africa: a narrative review

Jennifer G.R. Kromberg, Robyn A. Kerr

Oculocutaneous albinism (OCA) is a recessively inherited condition which affects about 1 in 5,000 people in Africa. The depigmentation of the skin and hair is very striking, unusual and unexpected, and stigmatisation has been ongoing for centuries. This narrative review asked: How …

Afrique du Sud (code pays fourni par la source)

A participatory systematic review on human rights and the birth of a child with albinism in sub-Saharan Africa

Sheryl Reimer Kirkham, Kendra L. Rieger, Barbara Astle, Meghann Buyco et autres

Background: The period surrounding birth is a crucial and determining time for many women, particularly for those who give birth to a child with albinism (CWA) due to the stigma, discrimination, and threat to safety they immediately encounter, altering their life trajectory. …

ca, Ghana, cz, us, Afrique du Sud, Tanzanie (code pays fourni par la source)

Trefor Jenkins (1932–2025): Pioneer of human genetics in southern Africa

Himla Soodyall, Michèle Ramsay, Jennifer G.R. Kromberg

Afrique du Sud (code pays fourni par la source)

The evolving role of genetic counselors in South Africa: A decade of growth

Elzette Gilfillan, Monica Araujo, Jennifer G.R. Kromberg, Tina‐Marié Wessels et autres

Genetic counseling has evolved from focusing solely on congenital anomaly prevention to incorporating psychological counseling. Traditionally, its goal has been to enhance patient care by providing clinical information and facilitating psychological adjustment. However, with the rise of genomics and complex testing technologies, …

Afrique du Sud (code pays fourni par la source)

Albinism research in a Southern African setting: unique findings

Jennifer G.R. Kromberg, Robyn A. Kerr

Research on oculocutaneous albinism (OCA) in the black African population has been ongoing for 52 years (1971-2023) in the Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. The aim of the present study was to review all the relevant …

Afrique du Sud (code pays fourni par la source)

History of medical genetics in South Africa

Jennifer G.R. Kromberg, Grietje de Jong

The Journal of the Colleges of Medicine of South Africa seeks to facilitate interdisciplinary and multidisciplinary dialogue and collaboration among healthcare professionals and researchers across different specialities and fields. The journal prioritises contributions, particularly emphasising the Southern African and African context while …

Afrique du Sud (code pays fourni par la source)

Genetic counseling in South Africa: A growing profession

Tina‐Marié Wessels, Jacquie Greenberg, Katryn Fourie, Jennifer G.R. Kromberg

The Genetic Counseling profession in South Africa (SA) was established 35 years ago when the first degree program was initiated at the University of the Witwatersrand in 1989. A second program was developed at the University of Cape Town in 2004. This …

Afrique du Sud (code pays fourni par la source)

Birth stories of South African mothers of children with albinism: A critical human rights analysis

Sheryl Reimer Kirkham, Barbara Astle, Jennifer G.R. Kromberg, Innocentia Mgijima-Konopi et autres

The genetic condition of oculocutaneous albinism is disproportionately present in Africa. Little research has addressed the experiences of mothers impacted by albinism, even though they are more likely to be impacted by human rights violations. A qualitative study was designed to examine …

ca, Afrique du Sud (code pays fourni par la source)

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review

Jennifer G.R. Kromberg, Kaitlyn A. Flynn, Robyn A. Kerr

Purpose: The aim of this systematic review was to investigate the available data on the epidemiology of oculocutaneous albinism (OCA) around the world, and to determine whether a generalizable, worldwide prevalence figure could be proposed. Methods: Extensive literature search strategies were conducted, …

Afrique du Sud (code pays fourni par la source)

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Jennifer G.R. Kromberg, Robyn A. Kerr

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about …

Afrique du Sud (code pays fourni par la source)

Children with oculocutaneous albinism in Africa: Characteristics, challenges and medical care

Jennifer G.R. Kromberg, Prashiela Manga, Robyn A. Kerr

Oculocutaneous albinism (OCA) is an inherited condition characterised by significantly reduced pigment in skin, hair and eyes, visual defects and an increased risk of skin cancer. In the South African black population, 1 in 4 000 people is affected. Quality of life …

Afrique du Sud, us (code pays fourni par la source)

Fanconi anaemia in South Africa: Past, present and future

Candice Feben, Tasha Wainstein, Jennifer G.R. Kromberg, Fahmida Essop et autres

Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing …

Afrique du Sud (code pays fourni par la source)