Delta-beta thalassemia

An individual with delta-beta thalassemia is usually asymptomatic, however microcytosis can occur where the red blood cells are abnormally small.{{Cite book |last=Pal |first=G. K. & |url=https://books.google.com/books?id=XpUAihQ7Ib4C&q=microcytosis+definition&pg=PA53 |title=Textbook Of Practical Physiology - 2Nd Edn. |date=2005 |publisher=Orient Blackswan |isbn=9788125029045 |page=53 |language=en |accessdate=17 September 2016}}

File:1GZX Haemoglobin.png

Delta-beta thalassemia is autosomal recessive disorder, which means both parents are affected and two copies of the gene must be present.{{Cite web |title=Autosomal recessive: MedlinePlus Medical Encyclopedia |url=https://medlineplus.gov/ency/article/002052.htm |access-date=17 September 2016 |website=medlineplus.gov}} A carrier gets a normal gene to produce hemoglobin A, from one parent and the other parent supplies a gene which makes no hemoglobin A.{{Cite web |title=Delta beta thalassemia carrier |url=https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/540622/1746-delta_beta_thalassaemia-PRINT_250716.pdf |url-status=dead |archive-url=https://web.archive.org/web/20160924163415/https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/540622/1746-delta_beta_thalassaemia-PRINT_250716.pdf |archive-date=24 September 2016 |access-date=17 September 2016 |website=Public Health England}} Delta-beta thalassemia is considered rare.{{Cite web |title=Thalassaemia {{!}} Health {{!}} Patient |url=http://patient.info/health/thalassaemia-leaflet |access-date=17 September 2016 |website=Patient}}

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.{{Cite web |title=Transcription and Translation - National Human Genome Research Institute (NHGRI) |url=https://www.genome.gov/27552603/transcription-and-translation/ |access-date=17 September 2016 |website=www.genome.gov |publisher=NIH}}{{Cite book |url=https://books.google.com/books?id=8s8stgvB1kUC&q=delta+beta+thalassemia+symptoms&pg=PA61 |title=Diagnostic pediatric hematopathology |date=2010 |publisher=Cambridge University Press |isbn=9780521881609 |editor-last=Proytcheva |editor-first=Maria |location=Cambridge |page=61 |language=en |accessdate=17 September 2016}}

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|date=September 2016}} The delta-beta thalassemia demonstrates one mutation is at the +69 position.{{Cite web |title=OMIM Entry - * 142000 - HEMOGLOBIN--DELTA LOCUS; HBD |url=http://www.omim.org/entry/142000 |access-date=17 September 2016 |website=www.omim.org}}

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{{Cite journal |last=Galanello |first=Renzo |last2=Origa |first2=Raffaella |date=2010 |title=Beta-thalassemia |journal=Orphanet Journal of Rare Diseases |volume=5 |issue=1 |pages=11 |doi=10.1186/1750-1172-5-11 |issn=1750-1172 |pmc=2893117 |pmid=20492708 |doi-access=free}}

Following the detection of hypochromic microcytic red blood cells, delta-beta thalassemia is confirmed by high-performance liquid chromatography.{{Cite journal |vauthors=Ahmad SQ, Zafar SI, Malik HS, Ahmed S |date=November 2017 |title=Delta-Beta Thalassaemia in a Pathan Family |journal=Journal of the College of Physicians and Surgeons (Pakistan) |volume=27 |issue=11 |pages=722–724 |pmid=29132487}}

When needed, treatment for anemia, such as blood transfusions are used.

Stem cell transplant is another option, but the donor and the individual who will receive the bone marrow transplant must be compatible, the risks involved should be evaluated.{{Cite journal |last=Cao |first=Antonio |last2=Galanello |first2=Renzo |date=2010-02-01 |title=Beta-thalassemia |journal=Genetics in Medicine |language=en |volume=12 |issue=2 |pages=61–76 |doi=10.1097/GIM.0b013e3181cd68ed |issn=1098-3600 |pmid=20098328 |doi-access=free}}{{Cite web |title=Risks |url=https://www.nhs.uk/conditions/stem-cell-transplant/risks/ |access-date=2018-04-28 |website=nhs.uk |language=en-GB}}

• Alpha thalassemia
• Beta-thalassemia
• Hemoglobinopathy

{{Reflist}}

• {{Cite journal |last=Verma |first=S |last2=Bhargava |first2=M |last3=Mittal |first3=SK |last4=Gupta |first4=R |date=1 January 2013 |title=Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin |journal=Iranian Journal of Pediatric Hematology and Oncology |volume=3 |issue=1 |pages=222–227 |issn=2008-8892 |pmc=3915439 |pmid=24575268}}
• {{Cite journal |last=Kumar |first=B. Vinodh |last2=Choccalingam |first2=Chidambharam |last3=Samuel |first3=Premila |date=1 March 2016 |title=Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. |journal=Journal of Clinical and Diagnostic Research |volume=10 |issue=3 |pages=BD01–BD02 |doi=10.7860/JCDR/2016/16352.7409 |issn=2249-782X |pmc=4843246 |pmid=27134860}}
• {{Cite web |title=Public Health Information Network Vocabulary Access and Distribution System (PHIN VADS) |url=https://phinvads.cdc.gov/vads/http://phinvads.cdc.gov/vads/ViewCodeSystemConcept.action?oid=2.16.840.1.113883.6.96&code=16360009 |access-date=17 September 2016 |website=CDC |publisher=Centers for Disease Control}}

{{Medical resources

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| ICD10 = {{ICD10|D56.2}}

| ICD9 = {{ICD9|282.45}}

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| MeshID = D055538

| Orphanet = 231237

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{{Diseases of RBCs}}

{{Medicine}}

Category:Disorders of globin and globulin proteins

Category:Hereditary hemolytic anemias