Delta-beta thalassemia
Delta-beta thalassemia | |
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Delta-beta thalassemia | |
Specialty | Hematology ![]() |
Causes | Produces only gamma-globin and forms HbF(deletes entire delta and beta gene sequence)[1] |
Diagnostic method | High-performance liquid chromatography |
Treatment | Blood transfusions[2] |
Delta-beta thalassemia is a rare form of
Signs and symptoms
An individual with delta-beta thalassemia is usually asymptomatic, however microcytosis can occur where the red blood cells are abnormally small.[1][4]
Mechanism
![](http://upload.wikimedia.org/wikipedia/commons/thumb/3/3d/1GZX_Haemoglobin.png/220px-1GZX_Haemoglobin.png)
Delta-beta thalassemia is
Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes sequences and only gamma-globin and HbF are formed. Rarely, non-deletional forms have been reported.[7][8]
When two delta0 mutations are inherited, no hemoglobin A2 (alpha2, delta2) are formed. This is innocuous because only 2-3% of normal adult hemoglobin is hemoglobin A2. The individual will have normal hematological parameters (erythrocyte count, total hemoglobin, mean corpuscular volume).[medical citation needed] The delta-beta thalassemia demonstrates one mutation is at the +69 position.[9]
Relation to beta thalassemia
Delta-beta thalassemia can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 results, but the co-existence of a delta-beta thalassemia mutation will decrease the value of the hemoglobin A2 into the normal range, thereby obscuring the diagnosis of beta thalassemia trait[10]
Diagnosis
Following the detection of
Treatment
When needed, treatment for
See also
- Alpha thalassemia
- Beta-thalassemia
- Hemoglobinopathy
References
- ^ a b c d "Delta-beta-thalassemia". Orphanet. Retrieved 16 September 2016.
- ^ a b c d "Thalassaemia | Health | Patient". Patient. Retrieved 17 September 2016.
- ^ "HBD - hemoglobin subunit delta". Orphanet. Retrieved 17 September 2016.
- ISBN 9788125029045. Retrieved 17 September 2016.
- ^ "Autosomal recessive: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 17 September 2016.
- ^ "Delta beta thalassemia carrier" (PDF). Public Health England. Archived from the original (PDF) on 24 September 2016. Retrieved 17 September 2016.
- ^ "Transcription and Translation - National Human Genome Research Institute (NHGRI)". www.genome.gov. NIH. Retrieved 17 September 2016.
- ISBN 9780521881609. Retrieved 17 September 2016.
- ^ "OMIM Entry - * 142000 - HEMOGLOBIN--DELTA LOCUS; HBD". www.omim.org. Retrieved 17 September 2016.
- PMID 20492708.
- PMID 29132487.
- PMID 20098328.
- ^ "Risks". nhs.uk. Retrieved 2018-04-28.
Further reading
- Verma, S; Bhargava, M; Mittal, SK; Gupta, R (1 January 2013). "Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin". Iranian Journal of Pediatric Hematology and Oncology. 3 (1): 222–227. PMID 24575268.
- Kumar, B. Vinodh; Choccalingam, Chidambharam; Samuel, Premila (1 March 2016). "Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F." Journal of Clinical and Diagnostic Research. 10 (3): BD01–BD02. PMID 27134860.
- "Public Health Information Network Vocabulary Access and Distribution System (PHIN VADS)". CDC. Centers for Disease Control. Retrieved 17 September 2016.