Fight­ing ge­netic dis­eases with trans­fu­sion, bone mar­row trans­plant

The East African - - OUTLOOK -

four weeks for life; the pro­ce­dures cost about $50,000 a year and pose their own risks, es­pe­cially a danger­ous buildup of iron.

A bone-mar­row trans­plant af­ter birth can cure the dis­ease, but only if a match­ing donor is found. The trans­plant also has dan­gers, and costs about $150,000.

Many ob­ste­tri­cians do not even tell pa­tients about trans­fu­sions, Macken­zie said.

Avail­able op­tions

“Ev­ery­one now is told to abort,” said Dr Elliott Vichin­sky, one of her re­search part­ners and the founder of the North­ern Cal­i­for­nia Com­pre­hen­sive Tha­lassemia Cen­ter at the UCSF Be­nioff Chil­dren’s Hos­pi­tal Oak­land. “We un­der­stand fam­i­lies should make that de­ci­sion if that’s right for them. We’re just say­ing they should be given the in­for­ma­tion that there are other op­tions.”

Some doc­tors are wary of trans­fu­sions be­cause they think that even if the child sur­vives, there is still too high a risk of sig­nif­i­cant brain dam­age. A re­port last year on an in­ter­na­tional registry of sur­vivors found that 20 per cent (11 of 55) had se­ri­ous de­lays in their neu­ro­log­i­cal de­vel­op­ment. An­other ar­ti­cle found de­lays in 29 per cent (4 of 14).

Macken­zie and Vichin­sky said they did not try to dis­cour­age par­ents who pre­ferred abor­tion. But some par­ents would rather avoid it.

“These are not un­wanted preg­nan­cies,” Macken­zie said. “We’re as pro-choice as you get. These are wanted preg­nan­cies for whom ther­apy could be of­fered. And you can have a choice to ter­mi­nate or you can have a choice to have ther­apy, but the bot­tom line is you have to be given those choices. And we recog­nise that’s a very personal choice, but we as doc­tors need to be pro­vid­ing you with those choices.”

Obar’s ge­netic coun­sel­lor men­tioned ter­mi­na­tion — but also trans­fu­sions. She and her hus­band chose trans­fu­sions.

The coun­sel­lor also de­scribed Macken­zie’s study. The chance that the trans­plant might help their daugh­ter ap­pealed to them, though they un­der­stood that it was an ex­per­i­ment and that there were no guar­an­tees. At this early stage in the re­search, the pri­mary aim of the study was to find out whether the treat­ment

The gen­eral goal ther­apy is to act early min­imise or even prev harm from se­vere pro start in the womb. W mar­row trans­plant, ad­van­tage of giv­ing it b is that the foetal imm is not yet fully de­velop un­likely to re­ject the tr

In con­trast, when are given af­ter birth, first needs an ar­duou che­mother­apy to wip im­mune sys­tem an re­jec­tion. That treatme be fa­tal: The death rat per cent, mostly from i

Bone-mar­row tran foe­tuses, some­times fa­ther as a donor, wer in the 1990s. Some w most failed, and doct aban­doned the Macken­zie said.

But re­search con an­i­mals, and a ke emerged. The mothe foe­tus, was re­ject­ing that came from fa­the donors.

A pos­si­ble so­lu­tio ev­i­dent. “Every­body ha donor when they’re a that’s the mom,” Macke

Ge­net­i­cally, the mot com­plete match — hal genes come from its fa she’s still the ideal do birth, be­cause dur­ing the ma­ter­nal and foet

Dr El­liot Vichin­sky ex­am­ines three-week-old Elianna Con­stantino as her par­ents look on at UCSF Be­nioff Chil­dren’’s Hos­pi­tal Oak­land o

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