Other options, such as gene therapy, are still being developed.A study by Kreger et al combining a retrospective review of three cases of alpha thalassemia major and a literature review of 17 cases found that in utero transfusion can lead to favorable outcomes. Successful hematopoietic cell transplantation was eventually carried out in four patients. Epidemiology
Worldwide distribution of inherited alpha-thalassemia corresponds to areas of malaria exposure, suggesting a protective role. Thus, alpha-thalassemia is common in sub-Saharan Africa, the Mediterranean Basin, and generally tropical (and subtropical) regions. The epidemiology of alpha-thalassemia in the US reflects this global distribution pattern. More specifically,  HbH disease is seen in Southeast Asia and the Middle East, while Hb Bart hydrops fetalis is acknowledged in Southeast Asia only. The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes. See also
Beta-thalassemia
Delta-thalassemia
Hemoglobinopathy

References
Further reading
Anie KA, Massaglia P (March 2014). "Psychological therapies for thalassaemia". The Cochrane Database of Systematic Reviews (3): CD002890. doi:10.1002/14651858.cd002890.pub2. PMC 7138048. PMID 24604627. Galanello R, Cao A (February 2011). "Gene test review. Alpha-thalassemia". Genetics in Medicine. 13 (2): 83–8. doi:10.1097/GIM.0b013e3181fcb468. PMID 21381239. External links
"What Are Thalassemias? - NHLBI, NIH". www.nhlbi.nih.gov. Retrieved 15 September 2016.
Stiff skin syndrome (also known as "Congenital fascial dystrophy") is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood. Immunologic abnormalities or vascular hyperactivity are not present in patients.Not much is known about it, cause or treatment, and further investigation is required, as it has only been reported 41 times throughout history. Genetics
This condition is associated with mutations in the Fibrillin 1 (FBN1) gene. Diagnosis
Differential diagnosis
Other conditions associated with mutations in this gene include acromicric dysplasia, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome. See also
Scleroderma
Self-healing papular mucinosis
List of cutaneous conditions

References


== External links ==