The Hematology session (formerly called Hematology 101)
Some of the talks gave handouts—this was one of them….so I only have a few notes. Once I get home, I will try to add more to this.
Must interpret cellularity in context with the CBC
If the CBC is normal and there is low cellularity, it may be a sampling error
Young children should be quite cellular
Be sure that the marrow is read by those who work with children’s bone marrows…..
There was talk of clones, etc……. can’t draw pictures in email! LOL
CGH is a new genetics test like FISH that paints chromosomes various colors. We were told it is in the research stages—but know one person who has had it done.
MDS/Myelodysplastic syndrome is a highly contested area in IBMFS
People with IBMFS have abnormal marrows and may look like MDS marrows. MDS diagnosis is more complicated in SDS. Adult hem/oncs would say definite MDS…but in SDS it could be normal.
Hypo cellular marrow—mild decrease—wait and watch. The functional test is the blood counts. Over time, if cellularity is dropping and if counts also drop……it is premature to go to transplant with just low cellularity and normal counts.
Notes from Hematology break o0ut session:
I asked about kids without mutations that have been called SDS-like….when looking at the marrow, can you tell they have an inherited bone marrow failure syndrome? Could normal kids have some abnormalities in their marrow.
Yes, normal kids could have something pop up, and that is why repeat marrows are done. i..e if you have an abnormality (mild) in one our of five marrows, then it would be okay for a normal person to have it—but when you have a child who has abnormalities in every marrow, it is a clue to diagnosis.
He explained that of the kids with inherited marrow failure syndromes, 50% are diagnosed…. The other 50% don’t fall into the *named* IBMFS….but they know they have a BMFS because more than one child/person in the family has it
It can be autosomal recessive like SDS or autosomal dominant like SCN or sex linked recessive like DC (only males & skips a generation)
Looking at the marrow, you may not be able to tell that a person has an IBMFS…..
If you have one cell out of 20 with a chromosomal abnormality, it can be considered to be normal. If you have 2 out of twenty, it is a clone. FISH 4% of monosomy 7 is *okay* (tried to paraphrase what he was saying. It is not normal to have 4%, but continued follow up is needed. He went on to explain that sometimes cells can be together and sludge, etc…so that is why follow up is needed.
We talked about iron stores…and there are types of iron stores that you don’t want—especially ringed sideroblasts.
CBC is a late spot for leukemia or MDS. Cannot use CBC in BMFS—must do bone marrow biopsies.
Abnormal clones—even with normal counts must be followed closely with more frequent marrows.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
