@redcell_doc Sickle cell DISEASE has a unique reason for thromboembolism -- PE predominance - in situ or embolism from legs? Unclear still. But we know #SCT patients have higher D-dimer levels so maybe there's a hint for more in trait patients. #ASH22 2/n
@redcell_doc so, why not look into this diverse and high powered cohort? Did you know 80% of 23andme people consent to research cohort (caveat 90% of this cohort is from the United States)! #ASH22 3/n
@redcell_doc And of course, able to exclude patients with SCD (with SC, Sbeta+, etc) and those with FVLeiden and prothombin gene mutation -- because they had that data in 23andme! Quite the dataset. #ASH22 4/n
@redcell_doc 18,200 (!) carriers included -- see here that there is more PE than just DVT in the sickle cell trait carriers. In fact, no increased risk of isolated DVT, but 2 fold increase of PE (+/- DVT) compared to those without. #ASH22 5/n
@redcell_doc Their numbers were so large that you really can see how impactful this huge dataset was to show no overlap in confidence intervals. Loved this specific and useful slide. #23andme 6/6 #ASH22
• • •
Missing some Tweet in this thread? You can try to
force a refresh
Two oral abstracts on the #STELLAR study (Sickle Cell Transplant Evaluation of Long-term and Late Effects Registry) presented by Dr. Sobenna George (hi!) and Dr. Lillian Meacham #ASH22 1/n
What's the problem? You can get DOR = diminished ovarian reserve or POI = primary ovarian insufficiency (early menopause). This is SUCH a good explanation!! #ASH22 2/n
Small numbers but such great data, 30 females and 18 males, about 4-6 years post therapy (myeloablative transplants (mostly matched sib) and one each with gene tx) #ASH22 3/n
They looked at 5022 patients with Rx of DMTs. Those on DMTs were surprisingly mostly in the 18-45 group (the box is wrong on the screenshot) and mostly male and had more VOCs. #ASH22 3/n
Management of pregnant women with #SCD in high income countries with Dr. Eugene Oteng-Ntim (with the cutest intro from Dr. Eugenia Asare). Writing down the #pearls here so I can share with my patients for their future and so I can advocate for them. #ASH22 1/n
As we know, more low/not detectable AMH levels in women with #SCD. Know that preimplantation diagnosis and successful transfer is possible with data to support that. And many want #NIPT secondary to fear of amnio or CVS, which can be done. (w/ @nonacus) #ASH22 2/n
What risks are we talking about in sickle cell disease and pregnancy? 1/4 of the patients in their cohort required transfusion during pregnancy and RR of preeclampsia is 2.43 and 3x risk of SGA, 4x risk of stillbirth. #ASH22 3/n
Dr. Mark Fleming talking about pathology vs molecular testing in MDS. He first reminds us the difference of childhood MDS from adult MDS -- and these WHO guidelines, childhood MDS is only classified into these two subtypes. #ASH22 1/n
The issue is that the "dysplasia" definition has been defined by the cytogenetic abnormalities and genotypes of adult MDS so the criteria for blast %age, extent of dysplasia -- but does this apply?? #ASH22 2/n
MDS in pediatric patients is more normo or hypocellular than hypercellular. There is not ringed sideroblasts in persons <30 and he also reminds us that there are a number of baseline dysplasias in germline BMF pts that are mistaken for MDS! #ASH22 3/n
#ASH22 Bone marrow failure syndromes: diagnostic principles in 2022. Starting with Sara Lewis, a genetic counselor in hematology. Follow this tweet for more. 1/n
Sara reminds us that she feels patients think more about their family history as they see her draw the pedigree. Time for me to start doing this! #phodocs#ASH22#pearl 2/n
Here are the options for diagnostic workup - genetic tests can be done from somatic genes or germline! #ASH22 3/n
@bhwords Dr. Beverley Hunt presenting on #COVID19 and #thrombosis. She wants to chronologically review the battles we have fought! #ASH22 1/n
@bhwords This story (clinical presentation) -- a reminder of the patients from the front lines in the beginning and what some docs went through! #COVID19#ASH22 2/n
@bhwords#COVID19 is the 'perfect suit for VTE' ... inflammation, sticky blood, vessel wall changes. The amazingly high levels of fibrinogen (14g/L! (normal is 2-4g/L)) D-dimers reported on a log scale because of the significant increase. #ASH22 3/n