need help with blood work and diagnosis please

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need help with blood work and diagnosis please
« on: March 12, 2014, 03:31:48 AM »
Hello everyone. New to the group and so glad to have found somewhere to ask questions. My sons blood work is
Hemoglobin A    57.0
Hemoglobin F     3.0
Hemoglobin S     36.4
Hemoglobin C      absent
Hemoglobin A2     3.6

Vitamin d             26.0

WBC                    6.5
RBC                     4.4
Hemoglobin          11.4
Hematocrit            32.5
MCV                     74
MCH                      25.9
MCHC                    35.1

Platelets               287

ferritin                  55

What can you make of this? I knew he had sickle cell trait from newborn screening, as I do and all of my children do. However, now I am being told he has thalassemia minor. Does this mean he has sickle thalassemia? He is only 5 and is having unexplained fevers on and off, twice being hospitalized. Latest most recently on vacation. Dropped t the floor and complained he wasn't feeling good, belly hurt, then all of a sudden got a fever, fell asleep and slept for 14 hours straight. After he just wasn't the same for days. Pains in his legs and joints where he wakes up screaming.( dr. says growing pains) Dark circles under his eyes that are getting worse. He looks sick. Tired all the time. Sleeps 12 hours a night and naps 2 hours, sometimes more, when he gets home from school. Pale face. Unexplained rashes that pop up out of nowhere, relieved by antihistamines however, allergy testing reveals nothing. Belly issues. Thought due to gluten sensitivity, but not fully relieved from diet. Does not do well in sun exposure nor does he do well in indoor pools and waterparks that are a constant heat. Fatigues very easily.
Any insight will be appreciated. Pediatrician wants him to see infectious disease dr, no idea why. He says because of unexplained fevers. I submitted blood work to local hematologist and awt call back to see if I can have an appt. I am worried for my little guy. He just doesn't look well.  ???
« Last Edit: March 12, 2014, 05:11:35 PM by lauramic »

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Offline Andy Battaglia

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Re: need help with blood work and diagnosis please
« Reply #1 on: March 12, 2014, 11:23:31 PM »
Hi Lauramic,

The electrophoresis shows 57% HbA and 36% HbS and this is in the range of sickle cell trait. If those two numbers were reversed, then sickle cell beta+ thalassemia would be the expected diagnosis. A>S = Sickle cell trait. S>A = sickle cell beta+ thal. However, the child is exhibiting symptoms one would expect with sickle cell beta+ thal. If this is the case, the other parent is a beta thal carrier.

There is a good article on sickle cell beta+ thal at http://www.nepscc.org/NewFiles/sickle_thal%20_plus_handout.pdf
Your doctors need to be aware that sickle cell beta+ thal does have symptoms and these include the possibility of painful sickling crises.

Quote
Painful episodes can occur with sickle-thalassemia. The sickled red
blood cells in sickle-thalassemia, somewhat like those in sickle cell
anemia, are rigid and stiff and may sometimes cause "log jams" in the
small blood vessels in the bones, organs, and other parts of the body.
Since oxygen (which is carried by the red blood cells) cannot get past
the "log jams" into the bones and organs, this can cause pain. These
painful episodes occur most commonly in the back, stomach, arms, and
legs.
They can last for a few hours to as much as a week or more.
Occasionally, the pain is accompanied by swelling. Painful episodes can
vary in severity of the pain and the duration. There are medicines to help ease the pain and make
your child more comfortable.
Your child has an increased risk of getting infections, especially pneumonia. The abnormal sickled red
blood cells "clog up" the lungs and thus increase the risk of infection there.
Sometimes children with Sickle Beta Plus Thalassemia have a slightly enlarged spleen, but this usually
does not cause any problems.
IT IS IMPORTANT TO INFORM ANY PHYSICIAN THAT SEES YOUR CHILD
THAT HE OR SHE HAS SICKLE BETA PLUS THALASSEMIA!

You need to be aware that high altitudes can set off a crisis (this can happen even with just sickle trait and almost killed a player in the National Football League a few years ago).
Quote
WHAT YOU CAN EXPECT
Supported in part by Projects # MCJ-481004 and # 2H46 MC00232-02 from the Maternal and Child Health Bureau
(Title V, Social Security Act).
Adapted from materials by the Texas Department of Public Health Newborn Screening Program.
A child with sickle beta plus thalassemia can have a normal life-style and
life span. Your child should not be considered "sick", and you should treat
him or her normally. He/She will need to be seen regularly by your family
doctor for regular check-ups and vaccinations. Your child will also need to
make several visits a year to see a hematologist or blood specialist.
Andy

All we are saying is give thals a chance.

Re: need help with blood work and diagnosis please
« Reply #2 on: March 17, 2014, 03:02:01 PM »
thank you Andy for your help! I appreciate it! Now why cant the dr explain this the way you do? Frustrating.

 

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