I have a young female patient (27 years) with macrocytic anemia (Hb 11 g/dl MCV 105 fl) without any other cytopenia, normal B12 and folic acid. She consulted because of recurrent abortion (2) of 2 anembrionic pregnancies. LAC, ACAs and AB2GP1 were ruled out. She refers chronic anemia and mother, siblings and close relatives with the same type of anemia. Iron metabolism is normal. She does not have celiaec disease (at least as to antibodies) and her anti-parietal cells and anti-intrinsic factor antibodies were negative. An upper video endoscopy was normal, without h. pylori. I wonder what diagnose to give her or what else can I do for her.
Hi Ricardo
This is an interesting case. In view of the strong family history, a possibility of an inherited anaemia such as congenital dyserythropoietic anaemias, thiamine responsive megaloblastic anaemia (TRMA) and mitochondrial diseases should be considered. She needs a bone marrow biopsy and karyotyping with appropriate molecular studies. Apart from high MCV, are there any other red cell morphological features (cytoplasmic inclusions, sideroblasts, abnormal nuclear chromatin...)?
Siva
Thank you for sharing your case. I think since B12 and folate are normal no need to seek for malabsorption or autoantobodies. Better to check for the more common liver disease, hypothyroidism or hemolytic anemia (reticulocytosis, splenomegaly, etc). I would recommend Hb variant by electrophoresis or HPLC to exclude HPFH. Family history is sometimes misleading!!
Best Regards,
Thank you Faez for your interest!
I´ve read about Xerocitosis (dehydrated stomacytosis) which could be a diagnosis. This erythrocyte membrane pathology is autosomal domminant and has diminish osmotic fragility, MCHC more than 36, and mutated genes: PIEZO 1 or Canal Gardos in exon 5 (KCNN4). I´m looking forward to study this on her and his parents.
Hi Ricardo
This is an interesting case. In view of the strong family history, a possibility of an inherited anaemia such as congenital dyserythropoietic anaemias, thiamine responsive megaloblastic anaemia (TRMA) and mitochondrial diseases should be considered. She needs a bone marrow biopsy and karyotyping with appropriate molecular studies. Apart from high MCV, are there any other red cell morphological features (cytoplasmic inclusions, sideroblasts, abnormal nuclear chromatin...)?
Siva
Thank you for your kind answer Siva! The patient doesn´t have any other abnormalities in her blood or body. I will look up bibliography for TRMA. I don´t think she has congenital dyserythropoietic anaemia cause she doesn´t have erythroblasts in blood. Nevertheless I could perform a HAM test.
The most important data, in this case, are the macrocytosis with a normal level of B12 and folates. This data are congruent with most of the hypothesis of Prof Siva including the congenital dyserythropoiesis in whose various forms, circulating NRBC can be absent. I think that the diagnostic pathway should also consider a decreased availability of the folates such as in the constitutional defect of folate's metabolism or the competitive situation such as in the presence of bothriocephalus
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