Thalasemia minor/trait missed miscarriage

Thank you for this forum!!
I was diagnosed with Thalassemia minor/trait as a child. As an adult I really never had any problems or symptoms other than feeling tired. I am a nurse and six years ago one of the Dr.s I worked for ordered some blood work on me. I did not have any problems she just wanted to do it. My Hemoglobin was normal but at the bottom of the normal range 12 (normal 11.7-15.5) and the same for my Hematocrit 35 (normal 35-45). My Hb-A1C came back pretty high I think the value was 8 I cant remember but she was VERY concerned I was diabetic. At the time my husband had just finished his medical training in Mexico where they are more exposed to thalassemia and gave me an article to give to the Dr. which stated that pateints with thalassemia minor get false high Hb-A1C. I have checked my FBS since freequently and they have all been great. I assumed that the elevated Hb-A1C was a confirmation of the thalasemia trait. I have had several CBCs since then and the results are always similar. At times I am one number below the normal range on both the Hbg and Hct but most of the time I am at the lowest value of normal. My CBC this year Hgb 12 and Hct 35.

I am 36 yo female trying to have a baby. I have diminished ovarian reserve and right tube block. I had IVF in March two good quality embryos were transferred and they both implanted. Baby A was doing really well with all the normal measurements and baby B was 1 week behind. At 7wk 1D I had a brown discarge the size of a nickle. Thats all no blood and no more brown dischage. I called the nurse and she told me to stop the ASA. My RE has his pts take ASA to increase blood supply to the uterus. I stopped the ASA the next day and intuition was telling me at the time that I should not stop it but I figured the Dr. Knows best. I had an Utrasound at 7wk5D Baby A HB 157 normal measurements Baby B HB 99 measured 1 week behind. At my next US 8wk4D both babies had no HB. I had a D & C and I am waiting to do IVF# 2.

My older sister has not been diagnosed with thalassemia but during her pregnancies she had some problem with excess of a protein and had to have lovenox injections.

My RE as well as another RE I consulted do not think that Thal minor is of any concern or impact to the pregnancy and do not address it. However, because of my sisters history he is going to order the repeated pregnancy loss panel which include the thrombophelia and MTHFR test.

I mentioned the information that I have learned through this website about hypercoagulate state but the responce was no that is only for thal intermedia or major. I tried to obtain the article you mentioned Congenital Thrombophelia and minor Thalassemia in Pregnancy but I got an error message when I tried togo into the website you posted. Is there any way that I could get that article? Also, as recommended by my RE I am taking CQ-10 400mg Bid and total fertility 3 cap Bid. Total Fertility has Vit E 400 IU, B12 50mcg, Folate 999mcg, K 120mcg, C 1000mg, magnessium 150mg, Calcium 300mg, B3 50mg, B5 40mg, B6 40mg, Zinc 30mg, Iron 18mg, B1 10mg, B2 10mg, A 5000IU, Copper 2mg, Selenium 200mcg, Chromium 200mcg, Iodine 175mcg, Biotin 50mcg, D 2000IU, EPA, DHA, Grape Seed Extract, Rutin, Quercetin, and Hesperidin.

What supplements do you think I should take in addition and is there anything in what I am taking that I should not be taking? Is there any test that you would recomend I have done? Oh! the product of my D&C was sent for Karyotype I should get my results next week. Will the Karyotype show if the babies had Thal and what type? My husband is very healthy as well as his family. They have absolutely no type of anemia in their family. It's very unlikely that he has it and he has not been tested.

Thank you sooo much!

Hi Sunshine1,

If you can show me the post with the link you mentioned, I can try to find another version of it. Do you have other results from your CBC, like MCV, MCH and RDW? There has to be more to diagnose thal minor than a low Hb and high HbA1c. By any chance have you also had a hemoglobin electrophoresis test? This test is normally used to diagnose thal trait. The reaction of the doctors is typical when it comes to thal minor. We tend to disagree when doctors routinely say thal minor isn't involved with health issues because we hear so much to the contrary, but when it comes to pregnancies, we have literally heard from hundreds of thal minor women who have had problems during pregnancy, often including two or more miscarriages. I have a hard time believing it is coincidence just from the sheer numbers reported. There are features of the thalassemic red blood cells that all thal minors produce to varying degrees, that are known to cause the hypercoagulable state in thal major and intermedia, but this is brushed off as a possibility in thal minor, even though one of the beta globin genes is not performing normally and some bad red blood cells are produced. The existence of these misshaped, pale red cells is easily confirmed and often mentioned with the CBC results. You might see them described as microcytic and hypochromic.

From the well known study at http://bloodjournal.hematologylibrary.org/content/99/1/36.full

Contribution of abnormal thalassemic RBCs to the hypercoagulable state

The mechanism of the hypercoagulable state in thalassemia has not been fully elucidated. However, evidence from studies of other types of hemolytic anemia, such as SCD and paroxysmal nocturnal hemoglobinuria (PNH), in which thrombosis is also a major clinical entity, may be helpful in understanding the etiology of the latter phenomena.57-59 Acomparison of normal RBCs with those isolated from patients with _-TM or _-TI by our group suggests that thalassemic RBCs may provide a source of negatively charged phospholipids, which can increase thrombin generation, as measured by prothrombinase assay.60,61 These results were confirmed in a similar assay using RBCs from splenectomized _-TI patients as a source of phospholipids.
19 The procoagulant effect of thalassemic RBCs seems to be due
to an increased surface expression of anionic phospholipids such as phosphatidylethanolamine (PE) and phosphatidylserine (PS). This was demonstrated by experiments that showed that annexin V, which binds anionic phospholipids, could block the procoagulant effect of isolated thalassemic RBCs.61 These data suggest that the procoagulant effect of thalassemic RBCs may contribute to the hypercoagulable state in thalassemia by amplifying thrombin generation and initiating platelet activation.

These properties of thal RBC's along with the fact that unmatched alpha globin will combine to form tetramers which also add to the hypercoagulable state, may be lesser in thal minors, but from the amount of miscarriages thal minors have, it is worthy of consideration as a possible cause.

I would suggest doubling the folate and stopping the K while pregnant, as K aids clotting and counters the thinning effects of vitamin E. The karyotype is done to look for any chromosomal abnormalities that may be present and possibly explain what happened. I would like to know if the placentas are ever examined in these cases to find an explanation for the reduced blood flow to the fetus.

My MCV 83, MCH 28.7, MCHC 14, RDW 14.1. According to my mom I was diagnosed as a child because I fainted a few times and they did a full work up. 

I am not sure if I had an electrophoresis test as an adult I vaguely remember something about it but I'm not sure. The truth is that I never paid much attention to thalassemia because I was always told that thalassemia minor had no symptoms or effect on the person.

Now that I'm trying to have a baby I am worried about everything.

Unfortunately the prenatal vita I am taking has vit K in it. If I become pregnant again I will discontinue it but I think most prenatal vita have vit k in it.??

Thanks for your reply.
Do you know if the thrombophilia and MTHFR panel will give any indication for the hypercoagulate state in thalassemia patients?

Your tests results are all in normal range. MCV and MCH are normally much lower in thal minor. The MCHC is a typo and should be 34, which is also normal. This is calculated by dividing the total hemoglobin by the hematocrit. 12/35=.34. The electrophoresis test would be needed to confirm thal trait. The thrombophilia test during pregnancy would confirm if hypercoagulation was taking place. The MTHFR test is to determine if your body can process folate normally, as this is a potential explanation for end of the pregnancy. In some cases, higher doses of folic acid are used to prevent further problems. Is this test being done? I think the results of the karyotype and any other tests should be seen before speculating further.