> For the complete documentation index, see [llms.txt](https://thisispiggy.gitbook.io/my-wiki/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://thisispiggy.gitbook.io/my-wiki/01-step-1/heme/12-thalassemia.md).

# 12 Thalassemia

## Globin

![](https://f001.backblazeb2.com/file/wikiFiles/ZDkXFm4.jpg)

* alpha chain very important: component of all 3 types

![](https://f001.backblazeb2.com/file/wikiFiles/MJM7RGM.jpg)

* beta thalassemia only affects A

![](https://f001.backblazeb2.com/file/wikiFiles/FIIs4CV.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/xQSy8JZ.jpg)

* sample from patient in gel with electrical charge

## Thalassemia

![](https://f001.backblazeb2.com/file/wikiFiles/gmp60Ic.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/ODmENHy.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/Kzocbey.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/w4HY50Z.jpg)

* decreased hemoglobin causes thalassemia

## Alpha

![](https://f001.backblazeb2.com/file/wikiFiles/03idUNp.jpg)

* top right: normal, 2 alpha on each copy of Ch 16
* alpha: gene deletion
* depending on number missing, severity

![](https://f001.backblazeb2.com/file/wikiFiles/8RAzgvZ.jpg)

* if not lead poisoning, sideroblastic, or iron, suspect thalassemia
* use electrophoresis to determine alpha or beta 

### Minima

![](https://f001.backblazeb2.com/file/wikiFiles/o4JHsZf.jpg)

* only risk is pass to offspring

### Minor

![](https://f001.backblazeb2.com/file/wikiFiles/6okIMvJ.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/qNEPrMW.jpg)

* cis more risk: parent can pass 2 deleted genes to offspring 
* trans: can only pass on one deleted gene

### HbH Disease

![](https://f001.backblazeb2.com/file/wikiFiles/W3GFnUv.jpg)

* excess beta globin but can't combine with alpha globin
* binds O2 but won't release

![](https://f001.backblazeb2.com/file/wikiFiles/Eza6J52.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/hRADkpE.jpg)

* cleared by spleen
* can look a lot like iron deficiency, but never see hemolysis (high bilirubin, splenomegaly) in iron deficiency

![](https://f001.backblazeb2.com/file/wikiFiles/y20a1FO.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/mNM7cV2.jpg)

### Bart

![](https://f001.backblazeb2.com/file/wikiFiles/In7pn3c.jpg)

* negative coombs test, compared to erythroblastosis fetalis

## Beta

![](https://f001.backblazeb2.com/file/wikiFiles/jgsHlzj.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/2fON5Uc.jpg)

* mutation can result in no function or some function
* minor: 1 mutated gene
* major: both genes mutated

![](https://f001.backblazeb2.com/file/wikiFiles/8RAzgvZ.jpg)

* if not lead poisoning, sideroblastic, or iron, suspect thalassemia
* use electrophoresis to determine alpha or beta 

![](https://f001.backblazeb2.com/file/wikiFiles/QDGVoaE.jpg)

* mediterranean thalassemia
* italy/greece.,

### Minor

![](https://f001.backblazeb2.com/file/wikiFiles/k2ZL4R5.jpg)

* still makes enough to be asymptomatic
* increased A2 is hallmark of **minor**

### Major

![](https://f001.backblazeb2.com/file/wikiFiles/wQGSVOa.jpg)

* severe anemia and reduced RBC count

![](https://f001.backblazeb2.com/file/wikiFiles/NwMAeNH.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/KN699Q0.jpg)

* lots of abnormalities on smear

![](https://f001.backblazeb2.com/file/wikiFiles/gD70FCj.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/UMGjOR8.jpg)

* extra cell membrane or shrink volume

![](https://f001.backblazeb2.com/file/wikiFiles/CbrmCSY.jpg)

* decreased volume with low Hb

![](https://f001.backblazeb2.com/file/wikiFiles/WDHSrIA.jpg)

* bone marrow working so hard to make RBC: abnormal skull/face
* crew cut: skull with fine points sticking out of it

![](https://f001.backblazeb2.com/file/wikiFiles/SlSfBKn.jpg)

* liver/spleen make RBC with very high EPO

![](https://f001.backblazeb2.com/file/wikiFiles/8eF6gSK.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/8XpGyGd.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/aFNHeed.jpg)

### Intermedia

![](https://f001.backblazeb2.com/file/wikiFiles/vpirLYu.jpg)

* symptoms of anemia but not severe enough to require transfusion

## Misc

![](https://f001.backblazeb2.com/file/wikiFiles/pMu9Wdi.jpg)

* just as likely to be infected as others, but less severe

![](https://f001.backblazeb2.com/file/wikiFiles/5uhO3Hx.jpg)

* thalassemia: genetic disorder, all RBC affected
* only for mild, not major