Talk:Beta thalassemia/Archive 1

Article Assessment for WikiProject Medicine
Hello. I am a member of WikiProject Medicine, a Wikipedia wide project that maintains and improves articles that fall under the scope of medicine. Since your article has fallen under our scope, I have placed the correct template(s) on this talk page for verification. Upon reviewed of the article, I'd like to make a few points, as shown below: Leave a message on my talk page if you have any questions. I'm glad this article could fall within our scope, and I hope to see it grow large! Many thanks! Renaissancee (talk) 02:20, 17 June 2009 (UTC)
 * Assess article with class and importance factors
 * Lots of jargon, added template

A Broad Intro for the General Public has been Started
I am adding a broad intro to answer the criticism that this article has plenty of technical information, but little for the general public. Whereas the tech info here is related to medical diagnosis and categorization, the intro will seek to add a relationship to the basic science of molecular genetics. Sometimes there are specialist-generalist wars, so let me say I respect the technical knowledge and its details here. If the generalist statements have obvious exceptions, rather than show that you know the exceptions, change the writing (e.g., remove "always", "never" and other such mistake words). I probably know the exceptions too, but learning to write generally is hard if you're really a trained-scientist-specialist as I actually am. I'll use the added material as the INTRO, and move the present opening paragraph down as an exposition of DIAGNOSTIC CATEGORIES. Jerry-va (talk) 21:20, 10 December 2011 (UTC)

Definition change
I have just changed the definition and reverted to an older one. The reason is that the new one is too technical. I believe the majority of the readers seeking information from wikipedia are looking for a brief yet comprehensive information about the disease. Very detailed information like what sort of neocleotides are involved in the mutations are sought by researchers and healthcare professionals. That level of information can be obtained from visiting the sources. Glasszone33 (talk) 22:14, 15 January 2012 (UTC)

Beta Thalassemia Minor video
https://www.youtube.com/watch?v=vaIuS8Qcitc By Melody DeForge. — Preceding unsigned comment added by 109.151.19.139 (talk) 20:45, 24 March 2015 (UTC)

86.179.233.113 (talk) 11:28, 27 July 2012 (UTC)

Needs Photo
Perhaps an image of Hemoglobin beta from PDB can be used. There is one located at https://en.wikipedia.org/wiki/HBB#mediaviewer/File:Protein_HBB_PDB_1a00.png Zuzie3 (talk) 17:36, 14 May 2014 (UTC)

Overview in relation to SCA
Since it is stated this should be more geared to the general public, I thought I'd chip in. I'm not a specialist, have no medical training, so may be typical. I'd like to know how this relates to Sickle-cell Anaemia. This article has a good explanation of the underlying cause of beta-thal and the result: "Microcytic anaemia", but with respect to haemoglobin, does the disease present in a similar way to Sickle cell Anaemia? I.e. do both diseases result in a lack of iron in the red-blood cells? Do the red-blood cells both look "crescent-shaped"? 86.136.8.177 (talk) 19:23, 10 March 2015 (UTC)

Please refer to Thalpal.com 86.136.8.177 (talk) 19:23, 10 March 2015 (UTC)

Thalassemia map
http://3.bp.blogspot.com/-CeyaFwHVuMY/T28vDKkLxNI/AAAAAAAAACg/J-Mmi5xMncU/s1600/thalassemia.PNG 86.168.17.208 (talk) 22:53, 23 March 2015 (UTC) — Preceding unsigned comment added by 109.151.19.139 (talk)

Homozygous β thalassaemia in Egypt, ZACHARIAS HABIB
Homozygous β thalassaemia in Egypt by ZACHARIAS HABIB [1981] http://onlinelibrary.wiley.com/doi/10.1111/j.1601-5223.1981.tb01422.x/pdf

HABIB, Z. 1981. Homozygous β thalassaemia in Egypt. —Hereditas 95: 323-330. Lund, Sweden. ISSN 0018-0661. Received August 13, 1981

A proposita with severe homozygous β thalassaemia and a propositus with a milder condition, both born in Egypt of Egyptian parents, are reported. The presence of thalassaemia intermedia in the propositus is a possibility. At least one of 6,038 newborns in Egypt is homozygous for β thalassaemia.

A severe anaemia appearing in children as early as the eighth month of age associated with enlargement of the spleen and liver, mongoloid facies and skeletal changes, was first identified and described by Cooley and Lee (1925). The term “Thalassaemia” originated from the Greek ΘΑΛΑΣΣΑ (THALASSA) which means, the sea. “Thalassaemia” was coined to that anaemic disease by Whipple and Bradford (1936) since, at that time, it was thought to occur mainly in Mediterranean races. Later, Caminopetros (1938) proposed that the disease is genetically determined.

Thalassaemia has its greatest incidence in a broad zone extending from the Mediterranean basin (especially Cyprus, Greece and Italy) through the Middle East and Far East (Weatherall and Clegg 1981). However, the incidence varies. For instance, in Cyprus one out of 166 newborn infants is expected to be homozygous for β thalassaemia (ASHIOTIS et al. 1973), in Greece one of 625 (MALA-MOS et al. 1962; Ministry of Social Affairs 1976) and in Sardinia, Italy one of 250 (CAO et al. 1978).

The thalassaemia gene might have originated more than 50,000 years ago during the Paleolithic period, in an area now representing the southern part of Italy and Greece, as evidenced by skeletal remnants exhibiting bony changes similar to those of thalassaemia. Furthermore, two infant skulls dating to the 12th dynasty of the middle kingdom in ancient Egypt (about 2000 B.C.) showed thalas-saemic-like osteoporosis (Zaino 1964). Migration and subsequent gene flow could have resulted in the present cline of thalassaemia.

In β thalassaemia, there is a partial or total reduction in the output of β chains resulting in a marked globin chain imbalance and, consequently, an excess in alpha chain ensues. The gamma chain synthesis continues and forms haemoglobin (Hb) F (ααγγ). However, the total production of Hb F cannot compensate for the deficient Hb A (ααββ). There are not enough gamma chains to bind the excess alpha chains. Alpha chains precipitate in the red-cell precursors and cause mechanical damage to the red cells during maturation and in the peripheral blood as well, during its passage through the reticulo-endothelial system. A severe anaemia follows which is mainly dyserythropoietic and partly haemolytic. The clinical signs and symptoms in a homozygous β thalas-saemic are caused by the secondary effects resulting from the progressive anaemia (Weatherall and Clegg 1981).

From Egypt, Diwani (1944) reported the first three cases of, presumably, Cooley’s anaemia—two of them were of pure Egyptian stock, a 10-year-old boy and a 6-year-old girl. Both children had marked anaemia, mongoloid facies, enlarged spleen and liver, enlargement of the heart and marked osteoporosis. With to-day’s definition they were probably homozygous β thalassaemic patients. Later, Shukry and Awwaad (1954) presented two Egyptian families. The first had a 2-year-old son and a 5-year-old daughter, both showed all the severe manifestations of Cooley’s anaemia. The parents had mild anisocytosis and poikilocytosis. The second family had an 18-month-old son with severe Cooley’s anaemia which, in fact, was manifest already at the age of 10 months. The parents had moderate degrees of anaemia.

Two Egyptian families, each with a homozygous β thalassaemic child are reported in this paper.

109.151.19.139 (talk) 23:54, 26 March 2015 (UTC)

Thalassaemia in Cyprus, H. ASHIOTIS, Z. ZACHARIADIS, K. SOFRONIADOU
Thalassaemia in Cyprus, H. ASHIOTIS, Z. ZACHARIADIS, K. SOFRONIADOU http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1588975/pdf/brmedj01551-0052.pdf

Summary
Frequencies of the thalassaemias in Cyprus were examined by a survey of hospital inpatients and haematological investigations of adult and newborn population samples. 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. These are the highest frequencies of thalassaemia genes found today in any Caucasian population.

Introduction
Population genetic studies in areas where thalassaemias are common in addition to their theoretical interest are of much practical importance. In planning management facilities a consideration of the types and frequencies of the various thalassaemia genes in the population is necessary because the public health problems created by the various forms of thalassaemia differ. Information about the frequency of thalassaemia types in a population is also instrumental to the design of preventive programmes. While prevention of homozygous betathalassaemia through population screening and counselling of the subjects at risk is theoretically possible, a similar approach for alpha-thalassaemia is not justified because of the intrauterine death of the alpha-thalassaemia homozygotes and the inability to identify the matings at risk for offspring with Hb H disease.

The purpose of this study was to appraise the problem of thalassaemia in Cyprus, where preliminary evidence had indicated that both forms of thalassemia, alpha and beta, were common. Cyprus is the third largest island in the Mediterranean, having 633,000 inhabitants; 77.0% of Greek origin, 18.3% Turkish, and 4.7% of various other national backgrounds.' There have been two studies on thalassaemia in Cyprus. One was conducted before biochemical tests for thalassaemia were available, and it indicated that the frequency of thalassaemia trait among Greek Cypriots was 28%. Plato et al.,3 using a combination of haematological and biochemical tests, found that the frequency of beta-thalassaemia in Greek Cypriots was 6%. In this study we estimated the frequencies of thalassaemia in Cyprus by surveying hospital inpatients and unselected adult and newborn population samples. The data indicated that among Caucasian populations Cyprus is characterized by the highest frequencies of the alpha and beta-thalassaemia genes.

109.151.19.139 (talk) 16:55, 25 March 2015 (UTC)

Heterozygous β-thalassaemia as a susceptibility factor in mood disorders: excessive prevalence in bipolar patients by Alberto Bocchetta
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1156923/

Background
Previous preliminary reports have suggested potential interactions between microcytic anaemia and mood disorders. In particular, heterozygous β-thalassaemia has been implicated in the bipolar spectrum. This study surveyed relevant haematological parameters in a large sample of psychiatric outpatients with the aim of clarifying previous observations.

Methods
Mean Corpuscular Volume (MCV) was analysed in 1014 consecutive patients diagnosed according to modified Research Diagnostic Criteria (RDC). Haemoglobin electrophoresis and/or chromatography was performed in blood samples from 143 patients with reduced MCV. Prevalence of heterozygous β-thalassaemia was estimated based on the rates of patients with reduced MCV and increased haemoglobin A2 concentration

Conclusion
The results are consistent with the hypothesis that heterozygous β-thalassaemia might play a role as a susceptibility factor in bipolar spectrum disorders in specific populations.

86.143.138.209 (talk) 16:03, 3 April 2015 (UTC)

People with Beta thalassemia minor do have symptoms
Agarwal, M. and Mehta, B. (1982). Symptomatic beta thalassemia trait (A study of 143 cases).. [online] Journal of Postgraduate Medicine. Available at: http://www.jpgmonline.com/text.asp?1982/28/1/4/5608 [Accessed 16 Oct. 2017].

Alvarado, M. (2011). Beta Thalassemia Minor - Part 1. [video] Available at: https://www.youtube.com/watch?v=vaIuS8Qcitc [Accessed 16 Oct. 2017].

Alvarado, M. (2011). Beta Thalassemia Minor - Part 2. [video] YouTube. Available at: https://www.youtube.com/watch?v=Qq7jIj9HwAY [Accessed 16 Oct. 2017].

Andy, Zaini, Sharmin, Jade, Mariaf, Mommy, Dahlia, Moik and DoctorDani (2009). Study Finds Thal Minors do Have Symptoms. [online] Thalassemia patients and friends. Available at: http://www.thalassemiapatientsandfriends.com/index.php/topic,2769.0.html [Accessed 16 Oct. 2017].

BBC SPORT (2002). Clay soils Pete's record. [online] BBC News. Available at: http://news.bbc.co.uk/sport2/hi/tennis/french_open/1952120.stm [Accessed 16 Oct. 2017].

Premawardhena, A., Arambepola, M., Katugaha, N. and Weatherall, D. (2008). Is the beta thalassaemia trait of clinical importance? [online] PubMed. Available at: https://www.ncbi.nlm.nih.gov/pubmed/18341640 [Accessed 16 Oct. 2017].

62.102.148.185 (talk) 17:04, 17 October 2017 (UTC)
 * so...the issue is we go by MEDRS that indicates reviews or government (NIH NHS), or WHO or professional textbooks, should you wish to add text please therefore refer to Identifying_reliable_sources_(medicine)--Ozzie10aaaa (talk) 18:50, 17 October 2017 (UTC)

Zynteglo gene therapy
Newly approved gene therapy Zynteglo developed by bluebird bio (autologous CD34+ cells encoding βA-T87Q-globin gene) which "is the first and only one-time gene therapy for transfusion-dependent β-thalassaemia that gives patients the potential to reach transfusion independence" (https://www.zynteglo.eu/) should be incorporated to the article. Daevid (talk) 15:16, 16 August 2019 (UTC)
 * needs a review--Ozzie10aaaa (talk) 15:39, 16 August 2019 (UTC)
 * What review? My point is, that article should be updated, because of this https://www.iapo.org.uk/news/2019/apr/16/gene-therapy-%CE%B2-thalassaemia-approaches-european-market-approval. I am not in CoI, I just posted this info on talk page for someone, who want to edit this. Daevid (talk) 16:57, 16 August 2019 (UTC)
 * ok, however the references we use are via Identifying_reliable_sources_(medicine), and would not be supported by (https://www.zynteglo.eu/)--Ozzie10aaaa (talk) 17:01, 16 August 2019 (UTC)
 * Of course, that is the official product site. On that site you have a link to "EU Summary of Product Characteristics" https://www.ema.europa.eu/en/medicines/human/EPAR/zynteglo and other resources.

But yes, probably I should explicitely put it here, I thought it was easier to just inform about this thing (with one link and sentence) and if someone decides to write about it in the article, he will find relevant references. For example:

6. Locatelli F, Walters MC, Kwiatkowski JL, et al. Lentiglobin Gene Therapy for Patients with Transfusion-Dependent β-Thalassemia (TDT): Results from the Phase 3 Northstar-2 and Northstar-3 Studies. Blood. 2018;132(suppl 1):1025.

7. National Institutes of Health. Longterm follow-up of subjects with hemoglobinopathies treated ex vivo with gene therapy. ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT02633943. Published December 17, 2015. Updated January 31, 2019. Accessed May 31, 2019.

8. Cavazzana M, Hacein-Bey-Abina S, Payen E, et al. Longer Term Follow-up on the First Patients with Severe Hemoglobinopathies Treated with Lentiglobin Gene Therapy. Blood. 2017;130(suppl 1):4609.

9. Walters MC, Kwiatkowski JL, Rasko JEJ, et al. Clinical outcomes of LentiGlobin gene therapy for transfusion-dependent β-thalassemia (TDT) following completion of the NORTHSTAR (HGB-204) study: S141. HemaSphere. 2019;3(22). doi: 10.1097/01.HS9.0000558784.71127.f8

10. Locatelli F, Thompson AA, Hongeng SJ, et al. Safety and efficacy of LentiGlobin gene therapy in patients with transfusion-dependent B-thalassemia and non-B0/B0 genotypes in the phase 3 NORTHSTAR-2 study: S1632. HemaSphere. 2019;3(754). doi: 10.1097/01.HS9.0000564776.92239.40 — Preceding unsigned comment added by Daevid (talk • contribs) 21:58, 16 August 2019 (UTC)